A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581750



Internal ID16369159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46980526..47002814hg38UCSC Ensembl
Innerchr2:47207665..47229953hg19UCSC Ensembl
Innerchr2:47061169..47083457hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3822289
hg1922289
hg1822289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150442
SamplesHGDP00451
Known GenesTTC7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581750
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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