A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019696



Internal ID18762231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42609988..42844089hg38UCSC Ensembl
Innerchr5:42610090..42844191hg19UCSC Ensembl
Innerchr5:42645847..42879948hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38234102
hg19234102
hg18234102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5637n100
Supporting Variantsnssv3745970
Samples
Known GenesCCDC152, GHR, SEPP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019696
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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