A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3493870



Internal ID19081511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242946546..243094749hg38UCSC Ensembl
Innerchr1:243109848..243258051hg19UCSC Ensembl
Innerchr1:241176471..241324674hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38148204
hg19148204
hg18148204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012884
Supporting Variants
Samples
Known GenesLOC731275
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3493870
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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