A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005613



Internal ID19094830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117021251..117167959hg38UCSC Ensembl
Innerchr2:117778827..117925535hg19UCSC Ensembl
Innerchr2:117495297..117642005hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38146709
hg19146709
hg18146709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4057n100
Supporting Variantsnssv3580290, nssv3580288, nssv3729207, nssv3580295, nssv3580287, nssv3729206, nssv3729209, nssv3580296, nssv3580291, nssv3580289, nssv3580294, nssv3580293, nssv3580292, nssv3729208
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005613
Frequency
Sample Size11257
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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