A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580018



Internal ID18531613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97242637..97658064hg38UCSC Ensembl
Innerchr2:97908374..98274527hg19UCSC Ensembl
Innerchr2:97272092..97640959hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38415428
hg19366154
hg18368868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001249
Supporting Variants
Samples
Known GenesACTR1B, ANKRD36, ANKRD36B, COX5B, LOC100506076, LOC100506123
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580018
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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