A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029708



Internal ID18772239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62329986..62581801hg38UCSC Ensembl
Innerchr5:61625813..61877628hg19UCSC Ensembl
Innerchr5:61661570..61913384hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38251816
hg19251816
hg18251815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5690n100
Supporting Variantsnssv3640780
Samples
Known GenesDIMT1, IPO11, IPO11-LRRC70, KIF2A, LRRC70
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029708
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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