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dbVar

Database of genomic structural variation

nsv6314282

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(9;11)(q34;p11.2)dn AND multiple conditions
Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 133 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):137,767,171-137,767,171

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314282	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	137,767,171	137,767,171	+
nsv6314282	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	137,767,202	137,767,202	-
nsv6314282	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	46,597,770	46,597,770	-
nsv6314282	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	46,597,776	46,597,776	+
nsv6314282	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	140,661,623	140,661,623	+
nsv6314282	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	140,661,654	140,661,654	-
nsv6314282	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	46,619,320	46,619,320	-
nsv6314282	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	46,619,326	46,619,326	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975978	interchromosomal translocation	Multiple	Multiple	Aggressive behavior; Aggressive behavior; Aspiration; Aspiration; Asthma; Asthma; Atrial septal defect; Atrial septal defect; Atrial septal defect; Autistic behavior; Autistic behavior; Coarse facial features; Coarse facial features; Congenital pulmonary valvar stenosis; Constipation; Constipation; Delayed speech and language development; Delayed speech and language development; Dry skin; Dry skin; Emotional lability; Emotional lability; Emotional lability; Interatrial communication; PULMONIC STENOSIS; Pulmonic stenosis; Pulmonic stenosis; Severe global developmental delay; Severe global developmental delay; Thickened skin; Thickened skin	Pathogenic	ClinVar	RCV000258765.1, VCV000267847.1
nssv17975979	interchromosomal translocation	Multiple	Multiple	Aggressive behavior; Aggressive behavior; Aspiration; Aspiration; Asthma; Asthma; Atrial septal defect; Atrial septal defect; Atrial septal defect; Autistic behavior; Autistic behavior; Coarse facial features; Coarse facial features; Congenital pulmonary valvar stenosis; Constipation; Constipation; Delayed speech and language development; Delayed speech and language development; Dry skin; Dry skin; Emotional lability; Emotional lability; Emotional lability; Interatrial communication; PULMONIC STENOSIS; Pulmonic stenosis; Pulmonic stenosis; Severe global developmental delay; Severe global developmental delay; Thickened skin; Thickened skin	Pathogenic	ClinVar	RCV000258765.1, VCV000267847.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975978	Remapped	Perfect	GRCh38.p12	First Pass	NC_000009.12	Chr9	137,767,171	137,767,171	+
nssv17975979	Remapped	Perfect	GRCh38.p12	First Pass	NC_000009.12	Chr9	137,767,202	137,767,202	-
nssv17975978	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	46,597,770	46,597,770	-
nssv17975979	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	46,597,776	46,597,776	+
nssv17975978	Submitted genomic		GRCh37 (hg19)		NC_000009.11	Chr9	140,661,623	140,661,623	+
nssv17975979	Submitted genomic		GRCh37 (hg19)		NC_000009.11	Chr9	140,661,654	140,661,654	-
nssv17975978	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	46,619,320	46,619,320	-
nssv17975979	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	46,619,326	46,619,326	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975978	interchromosomal translocation	de novo	Aggressive behavior; Aggressive behavior; Aspiration; Aspiration; Asthma; Asthma; Atrial septal defect; Atrial septal defect; Atrial septal defect; Autistic behavior; Autistic behavior; Coarse facial features; Coarse facial features; Congenital pulmonary valvar stenosis; Constipation; Constipation; Delayed speech and language development; Delayed speech and language development; Dry skin; Dry skin; Emotional lability; Emotional lability; Emotional lability; Interatrial communication; PULMONIC STENOSIS; Pulmonic stenosis; Pulmonic stenosis; Severe global developmental delay; Severe global developmental delay; Thickened skin; Thickened skin	Pathogenic	ClinVar	RCV000258765.1, VCV000267847.1
nssv17975979	interchromosomal translocation	de novo	Aggressive behavior; Aggressive behavior; Aspiration; Aspiration; Asthma; Asthma; Atrial septal defect; Atrial septal defect; Atrial septal defect; Autistic behavior; Autistic behavior; Coarse facial features; Coarse facial features; Congenital pulmonary valvar stenosis; Constipation; Constipation; Delayed speech and language development; Delayed speech and language development; Dry skin; Dry skin; Emotional lability; Emotional lability; Emotional lability; Interatrial communication; PULMONIC STENOSIS; Pulmonic stenosis; Pulmonic stenosis; Severe global developmental delay; Severe global developmental delay; Thickened skin; Thickened skin	Pathogenic	ClinVar	RCV000258765.1, VCV000267847.1

No genotype data were submitted for this variant

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