A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999510



Internal ID19159047
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 StatusM
Merged Variantsdgv4057n100
Supporting Variantsnssv3729205
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)nsv999510
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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