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dbVar

Database of genomic structural variation

nsv3887722

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:155,752,188

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: 233954 SVs from 119 studies. See in: genome view

Remapped(Score: Good):251,879-156,004,066

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3887722	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	251,879	156,004,066
nsv3887722	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	168,546	155,233,731

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773029	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000848828.2, VCV000688137.2	1
nssv15774533	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000846039.2, VCV000685331.2	4
nssv17956920	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001829212.1, VCV001341223.1	3
nssv17957232	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001834509.1, VCV001341233.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15773029	Remapped	Good	NC_000023.11:g.(?_ 251879)_(156004066 _?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	251,879	156,004,066
nssv15774533	Remapped	Good	NC_000023.11:g.(?_ 251879)_(156004066 _?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	251,879	156,004,066
nssv17956920	Remapped	Good	NC_000023.11:g.(?_ 251879)_(156004066 _?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	251,879	156,004,066
nssv17957232	Remapped	Good	NC_000023.11:g.(?_ 251879)_(156004066 _?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	251,879	156,004,066
nssv15773029	Submitted genomic		NC_000023.10:g.(?_ 168546)_(155233731 _?)del	GRCh37 (hg19)		NC_000023.10	ChrX	168,546	155,233,731
nssv15774533	Submitted genomic		NC_000023.10:g.(?_ 168546)_(155233731 _?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	168,546	155,233,731
nssv17956920	Submitted genomic		NC_000023.10:g.(?_ 168546)_(155233731 _?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	168,546	155,233,731
nssv17957232	Submitted genomic		NC_000023.10:g.(?_ 168546)_(155233731 _?)del	GRCh37 (hg19)		NC_000023.10	ChrX	168,546	155,233,731

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
nssv15773029	GRCh37: NC_000023.10:g.(?_168546)_(155233731_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV000848828.2, VCV000688137.2	1
nssv15774533	GRCh37: NC_000023.10:g.(?_168546)_(155233731_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000846039.2, VCV000685331.2	4
nssv17956920	GRCh37: NC_000023.10:g.(?_168546)_(155233731_?)dup	copy number gain	germline	not provided	Pathogenic	ClinVar	RCV001829212.1, VCV001341223.1	3
nssv17957232	GRCh37: NC_000023.10:g.(?_168546)_(155233731_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001834509.1, VCV001341233.1	1

No genotype data were submitted for this variant

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