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dbVar

Database of genomic structural variation

nsv5564263

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:812

Description:NC_000004.11:g.(?_128802290)_(128803101_?)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: 114 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):127,881,135-127,881,946

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564263	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	127,881,135	127,881,946
nsv5564263	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	128,802,290	128,803,101

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059305	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001362926.2, VCV001054427.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059305	Remapped	Perfect	NC_000004.12:g.(?_ 127881135)_(127881 946_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	127,881,135	127,881,946
nssv17059305	Submitted genomic		NC_000004.11:g.(?_ 128802290)_(128803 101_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	128,802,290	128,803,101

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
nssv17059305	GRCh37: NC_000004.11:g.(?_128802290)_(128803101_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001362926.2, VCV001054427.2

No genotype data were submitted for this variant

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