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dbVar

Database of genomic structural variation

nsv3913689

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:24,915,369

Description:NCBI36/hg18 6q22.31-24.3(chr6:121394722-146272583)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: 56316 SVs from 133 studies. See in: genome view

Remapped(Score: Perfect):121,010,904-145,926,272

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
nsv3913689	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	121,010,904	121,010,904	145,926,272	145,926,272
nsv3913689	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	121,332,050	121,332,050	146,247,408	146,247,408
nsv3913689	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	121,373,749	121,394,722	146,272,583	146,289,101

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125076	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000449657.2, VCV000400410.2	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
nssv15125076	Remapped	Perfect	NC_000006.12:g.(12 1010904_121010904) _(145926272_145926 272)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	121,010,904	121,010,904	145,926,272	145,926,272
nssv15125076	Remapped	Perfect	NC_000006.11:g.(12 1332050_121332050) _(146247408_146247 408)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	121,332,050	121,332,050	146,247,408	146,247,408
nssv15125076	Submitted genomic		NC_000006.10:g.(12 1373749_121394722) _(146272583_146289 101)dup	NCBI36 (hg18)		NC_000006.10	Chr6	121,373,749	121,394,722	146,272,583	146,289,101

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
nssv15125076	NCBI36: NC_000006.10:g.(121373749_121394722)_(146272583_146289101)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000449657.2, VCV000400410.2	3

No genotype data were submitted for this variant

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