A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583177



Internal ID16370586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137009978..137066850hg38UCSC Ensembl
Innerchr2:137767548..137824420hg19UCSC Ensembl
Innerchr2:137484018..137540890hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3856873
hg1956873
hg1856873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151306
SamplesHGDP01249
Known GenesTHSD7B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583177
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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