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dbVar

Database of genomic structural variation

nsv6310927

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:4,867

Description:NC_000001.10:g.(?_19549098)_(19553964_?)del 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: 85 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):19,222,604-19,227,470

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310927	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	19,222,604	19,227,470
nsv6310927	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	19,549,098	19,553,964

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17972235	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001972393.3, VCV001456458.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17972235	Remapped	Perfect	NC_000001.11:g.(?_ 19222604)_(1922747 0_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	19,222,604	19,227,470
nssv17972235	Submitted genomic		NC_000001.10:g.(?_ 19549098)_(1955396 4_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	19,549,098	19,553,964

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
nssv17972235	GRCh37: NC_000001.10:g.(?_19549098)_(19553964_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001972393.3, VCV001456458.3

No genotype data were submitted for this variant

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