A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3498004



Internal ID19085645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238765419..238849875hg38UCSC Ensembl
Innerchr1:238928719..239013175hg19UCSC Ensembl
Innerchr1:236995342..237079798hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3884457
hg1984457
hg1884457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014709
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)nssv3498004
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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