A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048543



Internal ID19137762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:63690101..63799095hg38UCSC Ensembl
Innerchr13:64264234..64373228hg19UCSC Ensembl
Innerchr13:63162235..63271229hg18UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38108995
hg19108995
hg18108995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1686n100
Supporting Variantsnssv3526654, nssv3526653
Samples
Known GenesLINC00395, OR7E156P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048543
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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