A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187637



Internal ID21326470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206225736..206225736hg38UCSC Ensembl
chr2:207090460..207090460hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384601
hg194601
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3926394
Supporting Variants
SamplesHG002
Known GenesGPR1-AS
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187637
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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