Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3919301

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:10,979,608

Description:NCBI36/hg18 10q11.21-21.1(chr10:43291461-55325153)x3 AND See cases

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: 25141 SVs from 136 studies. See in: genome view

Remapped(Score: Pass):38,980,309-49,959,916

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3919301	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	-	38,980,309	49,959,916	-
nsv3919301	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	43,957,496	43,957,496	55,681,185	55,681,185
nsv3919301	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000010.9	Chr10	43,277,502	43,291,461	55,325,153	55,351,191

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127252	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451601.2, VCV000397996.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15127252	Remapped	Pass	NC_000010.11:g.(?_ 38980309)_(4995991 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	-	38,980,309	49,959,916	-
nssv15127252	Remapped	Good	NC_000010.10:g.(43 957496_43957496)_( 55681185_55681185) dup	GRCh37.p13	First Pass	NC_000010.10	Chr10	43,957,496	43,957,496	55,681,185	55,681,185
nssv15127252	Submitted genomic		NC_000010.9:g.(432 77502_43291461)_(5 5325153_55351191)d up	NCBI36 (hg18)		NC_000010.9	Chr10	43,277,502	43,291,461	55,325,153	55,351,191

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127252	NCBI36: NC_000010.9:g.(43277502_43291461)_(55325153_55351191)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000451601.2, VCV000397996.2	3

No genotype data were submitted for this variant

You are here: NCBI