A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021781



Internal ID18764315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32102613..32412387hg38UCSC Ensembl
Innerchr5:32102719..32412492hg19UCSC Ensembl
Innerchr5:32138476..32448249hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38309775
hg19309774
hg18309774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3636831
Samples
Known GenesGOLPH3, MTMR12, PDZD2, ZFR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021781
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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