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dbVar

Database of genomic structural variation

nsv4457630

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:38,259

Description:GRCh37/hg19 22q12.1(chr22:29167380-29205638)x1 AND not provided

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: 233 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):28,771,392-28,809,650

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457630	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	28,771,392	28,809,650
nsv4457630	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	29,167,380	29,205,638

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15771892	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000845831.2, VCV000685123.2	1
nssv15771901	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000845865.2, VCV000685157.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15771892	Remapped	Perfect	NC_000022.11:g.(?_ 28771392)_(2880965 0_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	28,771,392	28,809,650
nssv15771901	Remapped	Perfect	NC_000022.11:g.(?_ 28771392)_(2880965 0_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	28,771,392	28,809,650
nssv15771892	Submitted genomic		NC_000022.10:g.(?_ 29167380)_(2920563 8_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	29,167,380	29,205,638
nssv15771901	Submitted genomic		NC_000022.10:g.(?_ 29167380)_(2920563 8_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	29,167,380	29,205,638

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
nssv15771892	GRCh37: NC_000022.10:g.(?_29167380)_(29205638_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000845831.2, VCV000685123.2	1
nssv15771901	GRCh37: NC_000022.10:g.(?_29167380)_(29205638_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000845865.2, VCV000685157.2	1

No genotype data were submitted for this variant

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