A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004331



Internal ID19093548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75372007..75620267hg38UCSC Ensembl
Innerchr3:75421158..75669418hg19UCSC Ensembl
Innerchr3:75503848..75752108hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38248261
hg19248261
hg18248261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4778n100
Supporting Variantsnssv3733024, nssv3733025
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004331
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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