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dbVar

Database of genomic structural variation

nsv3924328

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:372,380

Description:NCBI36/hg18 6q16.1(chr6:95312025-95627230)x1 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: 2142 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):94,525,114-94,897,493

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
nsv3924328	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	94,525,114	94,545,586	94,860,791	94,897,493
nsv3924328	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	95,234,832	95,255,304	95,570,509	95,607,211
nsv3924328	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	95,291,553	95,312,025	95,627,230	95,663,932

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125456	copy number loss	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000450418.2, VCV000398562.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15125456	Remapped	Perfect	NC_000006.12:g.(94 525114_94545586)_( 94860791_94897493) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	94,525,114	94,545,586	94,860,791	94,897,493
nssv15125456	Remapped	Perfect	NC_000006.11:g.(95 234832_95255304)_( 95570509_95607211) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	95,234,832	95,255,304	95,570,509	95,607,211
nssv15125456	Submitted genomic		NC_000006.10:g.(95 291553_95312025)_( 95627230_95663932) del	NCBI36 (hg18)		NC_000006.10	Chr6	95,291,553	95,312,025	95,627,230	95,663,932

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
nssv15125456	NCBI36: NC_000006.10:g.(95291553_95312025)_(95627230_95663932)del	copy number loss	not provided	See cases	Likely benign	ClinVar	RCV000450418.2, VCV000398562.2	1

No genotype data were submitted for this variant

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