A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005647



Internal ID19094864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238489360..238612975hg38UCSC Ensembl
Innerchr1:238652660..238776275hg19UCSC Ensembl
Innerchr1:236719283..236842898hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38123616
hg19123616
hg18123616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv593n100
Supporting Variantsnssv3705536, nssv3483573
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)nsv1005647
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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