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dbVar

Database of genomic structural variation

nsv7096729

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:285

Description:NC_000004.11:g.(?_36317844)_(36318128_?)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: 84 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):36,316,222-36,316,506

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096729	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	36,316,222	36,316,506
nsv7096729	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	36,317,844	36,318,128

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791616	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003105514.2, VCV002423820.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791616	Remapped	Perfect	NC_000004.12:g.(?_ 36316222)_(3631650 6_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	36,316,222	36,316,506
nssv18791616	Submitted genomic		NC_000004.11:g.(?_ 36317844)_(3631812 8_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	36,317,844	36,318,128

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
nssv18791616	GRCh37: NC_000004.11:g.(?_36317844)_(36318128_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003105514.2, VCV002423820.2

No genotype data were submitted for this variant

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