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dbVar

Database of genomic structural variation

nsv3919302

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:329,594

Description:NCBI36/hg18 10q21.1(chr10:54669993-54949832)x1 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: 1103 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):53,218,833-53,548,426

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
nsv3919302	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	53,218,833	53,240,227	53,520,066	53,548,426
nsv3919302	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	54,978,593	54,999,987	55,279,826	55,308,186
nsv3919302	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000010.9	Chr10	54,648,599	54,669,993	54,949,832	54,978,192

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128874	copy number loss	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000452526.2, VCV000400899.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128874	Remapped	Perfect	NC_000010.11:g.(53 218833_53240227)_( 53520066_53548426) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	53,218,833	53,240,227	53,520,066	53,548,426
nssv15128874	Remapped	Perfect	NC_000010.10:g.(54 978593_54999987)_( 55279826_55308186) del	GRCh37.p13	First Pass	NC_000010.10	Chr10	54,978,593	54,999,987	55,279,826	55,308,186
nssv15128874	Submitted genomic		NC_000010.9:g.(546 48599_54669993)_(5 4949832_54978192)d el	NCBI36 (hg18)		NC_000010.9	Chr10	54,648,599	54,669,993	54,949,832	54,978,192

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
nssv15128874	NCBI36: NC_000010.9:g.(54648599_54669993)_(54949832_54978192)del	copy number loss	not provided	See cases	Likely benign	ClinVar	RCV000452526.2, VCV000400899.2	1

No genotype data were submitted for this variant

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