A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv914758



Internal ID15862028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105167153..105302140hg38UCSC Ensembl
Innerchr2:105783610..105918597hg19UCSC Ensembl
Innerchr2:105150042..105285029hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38134988
hg19134988
hg18134988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582577
Supporting Variants
Samples
Known GenesGPR45, TGFBRAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv914758
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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