A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv912187



Internal ID16206143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73643446..73689545hg38UCSC Ensembl
Innerchr2:73870573..73916672hg19UCSC Ensembl
Innerchr2:73724081..73770180hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3846100
hg1946100
hg1846100
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582210
Supporting Variants
Samples
Known GenesALMS1P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv912187
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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