A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002205



Internal ID18744737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240662330..240766810hg38UCSC Ensembl
Innerchr2:241601747..241706227hg19UCSC Ensembl
Innerchr2:241250420..241354900hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38104481
hg19104481
hg18104481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4197n100
Supporting Variantsnssv3729385
Samples
Known GenesAQP12A, AQP12B, KIF1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002205
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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