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dbVar

Database of genomic structural variation

nsv7097614

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:1,251,370

Description:NC_000007.13:g.(?_16131320)_(17382688_?)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: 3569 SVs from 108 studies. See in: genome view

Remapped(Score: Perfect):16,091,695-17,343,064

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097614	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	16,091,695	17,343,064
nsv7097614	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	16,131,320	17,382,688

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791997	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003107443.2, VCV002424210.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791997	Remapped	Perfect	NC_000007.14:g.(?_ 16091695)_(1734306 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,091,695	17,343,064
nssv18791997	Submitted genomic		NC_000007.13:g.(?_ 16131320)_(1738268 8_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	16,131,320	17,382,688

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
nssv18791997	GRCh37: NC_000007.13:g.(?_16131320)_(17382688_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003107443.2, VCV002424210.2

No genotype data were submitted for this variant

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