A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030693



Internal ID18773224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180953191..181015908hg38UCSC Ensembl
Innerchr5:180380191..180442908hg19UCSC Ensembl
Innerchr5:180312797..180375514hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3862718
hg1962718
hg1862718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5854n100
Supporting Variantsnssv3650317, nssv3650316
Samples
Known GenesBTNL3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030693
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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