A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3545122



Internal ID18496717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45496756..45616172hg38UCSC Ensembl
Innerchr17:43574122..43693538hg19UCSC Ensembl
Innerchr17:40929905..41049321hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38119417
hg19119417
hg18119417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056136
Supporting Variants
Samples
Known GenesLOC644172, LRRC37A4P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3545122
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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