A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729205



Internal ID19027486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117021251..117165215hg38UCSC Ensembl
Innerchr2:117778827..117922791hg19UCSC Ensembl
Innerchr2:117495297..117639261hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38143965
hg19143965
hg18143965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999510
Supporting Variants
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)nssv3729205
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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