A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999788



Internal ID18812638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:121447022..121726970hg38UCSC Ensembl
Innerchr4:122368177..122648125hg19UCSC Ensembl
Innerchr4:122587627..122867575hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38279949
hg19279949
hg18279949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639395
Samples
Known GenesANXA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999788
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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