A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017983



Internal ID19107200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116243068..116377991hg38UCSC Ensembl
Innerchr5:115578765..115713688hg19UCSC Ensembl
Innerchr5:115606664..115741587hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38134924
hg19134924
hg18134924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746593
Samples
Known GenesCOMMD10, LOC101927190
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017983
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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