A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023362



Internal ID18765895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36927550..37010647hg38UCSC Ensembl
Innerchr5:36927652..37010749hg19UCSC Ensembl
Innerchr5:36963409..37046506hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3883098
hg1983098
hg1883098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5632n100
Supporting Variantsnssv3637075, nssv3637076
Samples
Known GenesNIPBL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023362
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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