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dbVar

Database of genomic structural variation

nsv7093966

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:1,567,390

Description:NC_000012.11:g.(?_20522219)_(22089608_?)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: 4706 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):20,369,285-21,936,674

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093966	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	20,369,285	21,936,674
nsv7093966	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	20,522,219	22,089,608

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791479	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003105374.2, VCV002423437.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791479	Remapped	Perfect	NC_000012.12:g.(?_ 20369285)_(2193667 4_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	20,369,285	21,936,674
nssv18791479	Submitted genomic		NC_000012.11:g.(?_ 20522219)_(2208960 8_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	20,522,219	22,089,608

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
nssv18791479	GRCh37: NC_000012.11:g.(?_20522219)_(22089608_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003105374.2, VCV002423437.2

No genotype data were submitted for this variant

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