A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584823



Internal ID16372232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240684477..240742347hg38UCSC Ensembl
Innerchr2:241623894..241681764hg19UCSC Ensembl
Innerchr2:241272567..241330437hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3857871
hg1957871
hg1857871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7360n54
Supporting Variantsnssv933836
Samples
Known GenesAQP12A, KIF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584823
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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