A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015172



Internal ID18757707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36946352..36993178hg38UCSC Ensembl
Innerchr5:36946454..36993280hg19UCSC Ensembl
Innerchr5:36982211..37029037hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3846827
hg1946827
hg1846827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5633n100
Supporting Variantsnssv3637082
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)nsv1015172
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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