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dbVar

Database of genomic structural variation

nsv6314374

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:46;XY;t(2;12)(p25.1;p11.2)dn AND Global developmental delay
Publication(s):Manickam et al. 2021, Michelson et al. 2011, 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: 46 SVs from 11 studies. See in: genome view

Remapped(Score: Perfect):6,126,603-6,126,603

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314374	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	6,126,603	6,126,603	+
nsv6314374	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	6,126,681	6,126,681	+
nsv6314374	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	7,712,337	7,712,337	+
nsv6314374	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	7,712,487	7,712,487	+
nsv6314374	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	24,496,354	24,496,354	+
nsv6314374	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	24,496,558	24,496,558	+
nsv6314374	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	24,532,041	24,532,041	+
nsv6314374	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	24,532,128	24,532,128	+
nsv6314374	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	6,266,735	6,266,735	+
nsv6314374	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	6,266,813	6,266,813	+
nsv6314374	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	7,852,468	7,852,468	+
nsv6314374	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	7,852,618	7,852,618	+
nsv6314374	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	24,649,288	24,649,288	+
nsv6314374	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	24,649,492	24,649,492	+
nsv6314374	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	24,684,975	24,684,975	+
nsv6314374	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	24,685,062	24,685,062	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975222	interchromosomal translocation	Multiple	Multiple	Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258779.1, VCV000267993.1
nssv17976016	interchromosomal translocation	Multiple	Multiple	Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258779.1, VCV000267993.1
nssv17976001	interchromosomal translocation	Multiple	Multiple	Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258779.1, VCV000267993.1
nssv17976002	interchromosomal translocation	Multiple	Multiple	Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258779.1, VCV000267993.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975222	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	6,126,603	6,126,603	+
nssv17976016	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	6,126,681	6,126,681	+
nssv17976001	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	7,712,337	7,712,337	+
nssv17976002	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	7,712,487	7,712,487	+
nssv17976016	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	24,496,354	24,496,354	+
nssv17976001	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	24,496,558	24,496,558	+
nssv17976002	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	24,532,041	24,532,041	+
nssv17975222	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	24,532,128	24,532,128	+
nssv17975222	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	6,266,735	6,266,735	+
nssv17976016	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	6,266,813	6,266,813	+
nssv17976001	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	7,852,468	7,852,468	+
nssv17976002	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	7,852,618	7,852,618	+
nssv17976016	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	24,649,288	24,649,288	+
nssv17976001	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	24,649,492	24,649,492	+
nssv17976002	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	24,684,975	24,684,975	+
nssv17975222	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	24,685,062	24,685,062	+

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
nssv17975222	interchromosomal translocation	de novo	Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258779.1, VCV000267993.1
nssv17976016	interchromosomal translocation	de novo	Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258779.1, VCV000267993.1
nssv17976001	interchromosomal translocation	de novo	Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258779.1, VCV000267993.1
nssv17976002	interchromosomal translocation	de novo	Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258779.1, VCV000267993.1

No genotype data were submitted for this variant

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