A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015638



Internal ID18758172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36203544..36312474hg38UCSC Ensembl
Innerchr5:36203646..36312576hg19UCSC Ensembl
Innerchr5:36239403..36348333hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38108931
hg19108931
hg18108931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3637072
Samples
Known GenesNADK2, RANBP3L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015638
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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