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dbVar

Database of genomic structural variation

nsv3887282

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:96,735

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: 130 SVs from 31 studies. See in: genome view

Remapped(Score: Good):102,341,782-102,438,516

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3887282	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	102,341,782	102,438,516
nsv3887282	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	101,596,705	101,693,437

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15139363	copy number gain	Multiple	Multiple	See cases	Benign/Likely benign	ClinVar	RCV000448172.3, VCV000395397.3	3
nssv15140402	copy number gain	Multiple	Multiple	See cases	Benign/Likely benign	ClinVar	RCV000446831.3, VCV000395396.3	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15139363	Remapped	Good	NC_000023.11:g.(?_ 102341782)_(102438 516_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	102,341,782	102,438,516
nssv15140402	Remapped	Good	NC_000023.11:g.(?_ 102341782)_(102438 516_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	102,341,782	102,438,516
nssv15139363	Submitted genomic		NC_000023.10:g.(?_ 101596705)_(101693 437_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	101,596,705	101,693,437
nssv15140402	Submitted genomic		NC_000023.10:g.(?_ 101596705)_(101693 437_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	101,596,705	101,693,437

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
nssv15139363	GRCh37: NC_000023.10:g.(?_101596705)_(101693437_?)dup	copy number gain	not provided	See cases	Benign/Likely benign	ClinVar	RCV000448172.3, VCV000395397.3	3
nssv15140402	GRCh37: NC_000023.10:g.(?_101596705)_(101693437_?)dup	copy number gain	not provided	See cases	Benign/Likely benign	ClinVar	RCV000446831.3, VCV000395396.3	2

No genotype data were submitted for this variant

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