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dbVar

Database of genomic structural variation

nsv7097148

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:3,904,212

Description:NC_000005.9:g.(?_52285299)_(56189507_?)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: 10438 SVs from 104 studies. See in: genome view

Remapped(Score: Perfect):52,989,469-56,893,680

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097148	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	52,989,469	56,893,680
nsv7097148	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	52,285,299	56,189,507

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792102	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003107599.2, VCV002424366.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792102	Remapped	Perfect	NC_000005.10:g.(?_ 52989469)_(5689368 0_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	52,989,469	56,893,680
nssv18792102	Submitted genomic		NC_000005.9:g.(?_5 2285299)_(56189507 _?)del	GRCh37 (hg19)		NC_000005.9	Chr5	52,285,299	56,189,507

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
nssv18792102	GRCh37: NC_000005.9:g.(?_52285299)_(56189507_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003107599.2, VCV002424366.2

No genotype data were submitted for this variant

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