A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150441



Internal ID15507345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46777649..47098834hg38UCSC Ensembl
Innerchr2:47004788..47325973hg19UCSC Ensembl
Innerchr2:46858292..47179477hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38321186
hg19321186
hg18321186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581749
Supporting Variants
Samples1780854536_A
Known GenesC2orf61, LINC01118, LINC01119, MCFD2, TTC7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150441
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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