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dbVar

Database of genomic structural variation

nsv3873328

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:147,816

Description:
See descriptions for individual calls in download files

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: 361 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):38,627,546-38,775,361

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3873328	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	38,627,546	38,775,361
nsv3873328	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	38,486,799	38,634,614

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142319	copy number gain	Multiple	Multiple	See cases	conflicting data from submitters	ClinVar	RCV000511135.2, VCV000442682.2	3
nssv15152089	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000512292.2, VCV000442683.2	2
nssv17957551	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001827952.1, VCV001340757.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142319	Remapped	Perfect	NC_000023.11:g.(?_ 38627546)_(3877536 1_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	38,627,546	38,775,361
nssv15152089	Remapped	Perfect	NC_000023.11:g.(?_ 38627546)_(3877536 1_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	38,627,546	38,775,361
nssv17957551	Remapped	Perfect	NC_000023.11:g.(?_ 38627546)_(3877536 1_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	38,627,546	38,775,361
nssv15142319	Submitted genomic		NC_000023.10:g.(?_ 38486799)_(3863461 4_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	38,486,799	38,634,614
nssv15152089	Submitted genomic		NC_000023.10:g.(?_ 38486799)_(3863461 4_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	38,486,799	38,634,614
nssv17957551	Submitted genomic		NC_000023.10:g.(?_ 38486799)_(3863461 4_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	38,486,799	38,634,614

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
nssv15142319	GRCh37: NC_000023.10:g.(?_38486799)_(38634614_?)dup	copy number gain	see ClinVar for details	See cases	conflicting data from submitters	ClinVar	RCV000511135.2, VCV000442682.2	3
nssv15152089	GRCh37: NC_000023.10:g.(?_38486799)_(38634614_?)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000512292.2, VCV000442683.2	2
nssv17957551	GRCh37: NC_000023.10:g.(?_38486799)_(38634614_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001827952.1, VCV001340757.1	2

No genotype data were submitted for this variant

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