A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034694



Internal ID18777227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36946352..36991503hg38UCSC Ensembl
Innerchr5:36946454..36991605hg19UCSC Ensembl
Innerchr5:36982211..37027362hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3845152
hg1945152
hg1845152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5633n100
Supporting Variantsnssv3637081
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)nsv1034694
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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