A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584827



Internal ID16372236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240684477..240769258hg38UCSC Ensembl
Innerchr2:241623894..241708675hg19UCSC Ensembl
Innerchr2:241272567..241357348hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3884782
hg1984782
hg1884782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7361n54
Supporting Variantsnssv1151194
SamplesHGDP01255
Known GenesAQP12A, KIF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584827
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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