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dbVar

Database of genomic structural variation

nsv6311928

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:97,603

Description:NC_000002.11:g.(?_48035257)_(48132859_?)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: 342 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):47,808,118-47,905,720

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311928	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	47,808,118	47,905,720
nsv6311928	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	48,035,257	48,132,859

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17972119	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001966956.2, VCV001471795.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17972119	Remapped	Perfect	NC_000002.12:g.(?_ 47808118)_(4790572 0_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,808,118	47,905,720
nssv17972119	Submitted genomic		NC_000002.11:g.(?_ 48035257)_(4813285 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	48,035,257	48,132,859

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
nssv17972119	GRCh37: NC_000002.11:g.(?_48035257)_(48132859_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001966956.2, VCV001471795.2

No genotype data were submitted for this variant

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