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dbVar

Database of genomic structural variation

nsv3921775

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:5,595,282

Description:NCBI36/hg18 6q16.1-16.3(chr6:97691375-103286627)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: 12902 SVs from 113 studies. See in: genome view

Remapped(Score: Good):97,136,778-102,732,059

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3921775	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	97,136,778	102,732,059
nsv3921775	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	97,584,654	103,179,934
nsv3921775	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	97,691,375	103,286,627

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15152078	copy number gain	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV000512273.2, VCV000443702.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15152078	Remapped	Good	NC_000006.12:g.(?_ 97136778)_(1027320 59_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	97,136,778	102,732,059
nssv15152078	Remapped	Good	NC_000006.11:g.(?_ 97584654)_(1031799 34_?)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	97,584,654	103,179,934
nssv15152078	Submitted genomic		NC_000006.10:g.(?_ 97691375)_(1032866 27_?)dup	NCBI36 (hg18)		NC_000006.10	Chr6	97,691,375	103,286,627

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
nssv15152078	NCBI36: NC_000006.10:g.(?_97691375)_(103286627_?)dup	copy number gain	paternal	See cases	Likely pathogenic	ClinVar	RCV000512273.2, VCV000443702.2	3

No genotype data were submitted for this variant

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