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dbVar

Database of genomic structural variation

nsv3910659

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:11,872,584

Description:NCBI36/hg18 22q13.1-13.33(chr22:37677186-49565879)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: 43920 SVs from 132 studies. See in: genome view

Remapped(Score: Good):38,916,487-50,789,070

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
nsv3910659	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	38,916,487	38,916,487	50,789,070	50,789,070
nsv3910659	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	39,312,492	39,312,492	51,227,498	51,227,498
nsv3910659	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000022.9	Chr22	37,642,438	37,677,186	49,565,879	49,574,364

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15129588	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453018.2, VCV000400190.2	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
nssv15129588	Remapped	Good	NC_000022.11:g.(38 916487_38916487)_( 50789070_50789070) dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	38,916,487	38,916,487	50,789,070	50,789,070
nssv15129588	Remapped	Good	NC_000022.10:g.(39 312492_39312492)_( 51227498_51227498) dup	GRCh37.p13	First Pass	NC_000022.10	Chr22	39,312,492	39,312,492	51,227,498	51,227,498
nssv15129588	Submitted genomic		NC_000022.9:g.(376 42438_37677186)_(4 9565879_49574364)d up	NCBI36 (hg18)		NC_000022.9	Chr22	37,642,438	37,677,186	49,565,879	49,574,364

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
nssv15129588	NCBI36: NC_000022.9:g.(37642438_37677186)_(49565879_49574364)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000453018.2, VCV000400190.2	3

No genotype data were submitted for this variant

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