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dbVar

Database of genomic structural variation

nsv3911517

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:183,803

Description:NCBI36/hg18 6p12.1(chr6:55354117-55480276)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: 702 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):55,351,649-55,535,451

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
nsv3911517	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	55,351,649	55,381,360	55,507,519	55,535,451
nsv3911517	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	55,216,447	55,246,158	55,372,317	55,400,249
nsv3911517	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	55,324,406	55,354,117	55,480,276	55,508,208

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128696	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452605.2, VCV000401197.2	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
nssv15128696	Remapped	Perfect	NC_000006.12:g.(55 351649_55381360)_( 55507519_55535451) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	55,351,649	55,381,360	55,507,519	55,535,451
nssv15128696	Remapped	Perfect	NC_000006.11:g.(55 216447_55246158)_( 55372317_55400249) dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	55,216,447	55,246,158	55,372,317	55,400,249
nssv15128696	Submitted genomic		NC_000006.10:g.(55 324406_55354117)_( 55480276_55508208) dup	NCBI36 (hg18)		NC_000006.10	Chr6	55,324,406	55,354,117	55,480,276	55,508,208

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
nssv15128696	NCBI36: NC_000006.10:g.(55324406_55354117)_(55480276_55508208)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000452605.2, VCV000401197.2	3

No genotype data were submitted for this variant

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