A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023752



Internal ID18766285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144835600..144866312hg38UCSC Ensembl
Innerchr8:146060985..146091697hg19UCSC Ensembl
Innerchr8:146031789..146062501hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3830713
hg1930713
hg1830713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3690121
Samples
Known GenesCOMMD5, ZNF7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023752
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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