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dbVar

Database of genomic structural variation

nsv3918827

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:191,737

Description:NCBI36/hg18 6p22.1(chr6:27726613-27878322)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: 824 SVs from 76 studies. See in: genome view

Remapped(Score: Good):27,629,620-27,821,356

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
nsv3918827	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	27,629,620	27,629,620	27,821,356	27,821,356
nsv3918827	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	27,597,399	27,618,634	27,770,343	27,789,134
nsv3918827	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	27,705,378	27,726,613	27,878,322	27,897,113

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128047	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452009.2, VCV000399184.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128047	Remapped	Good	NC_000006.12:g.(27 629620_27629620)_( 27821356_27821356) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	27,629,620	27,629,620	27,821,356	27,821,356
nssv15128047	Remapped	Perfect	NC_000006.11:g.(27 597399_27618634)_( 27770343_27789134) dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	27,597,399	27,618,634	27,770,343	27,789,134
nssv15128047	Submitted genomic		NC_000006.10:g.(27 705378_27726613)_( 27878322_27897113) dup	NCBI36 (hg18)		NC_000006.10	Chr6	27,705,378	27,726,613	27,878,322	27,897,113

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
nssv15128047	NCBI36: NC_000006.10:g.(27705378_27726613)_(27878322_27897113)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000452009.2, VCV000399184.2	3

No genotype data were submitted for this variant

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