A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009516



Internal ID18752047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54682283..54694673hg38UCSC Ensembl
Innerchr4:55548449..55560839hg19UCSC Ensembl
Innerchr4:55243206..55255596hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3812391
hg1912391
hg1812391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3625276
Samples
Known GenesKIT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009516
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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