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dbVar

Database of genomic structural variation

nsv7097207

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:316,240

Description:NC_000003.11:g.(?_53529194)_(53845433_?)dup 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: 538 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):53,495,167-53,811,406

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097207	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	53,495,167	53,811,406
nsv7097207	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	53,529,194	53,845,433

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791420	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003105314.2, VCV002423377.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791420	Remapped	Perfect	NC_000003.12:g.(?_ 53495167)_(5381140 6_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	53,495,167	53,811,406
nssv18791420	Submitted genomic		NC_000003.11:g.(?_ 53529194)_(5384543 3_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	53,529,194	53,845,433

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
nssv18791420	GRCh37: NC_000003.11:g.(?_53529194)_(53845433_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003105314.2, VCV002423377.2

No genotype data were submitted for this variant

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