A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026257



Internal ID18768789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76535212..76618178hg38UCSC Ensembl
Innerchr5:75831037..75914003hg19UCSC Ensembl
Innerchr5:75866793..75949759hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3882967
hg1982967
hg1882967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5702n100
Supporting Variantsnssv3639016, nssv3639014, nssv3639020, nssv3639015, nssv3639018, nssv3639013, nssv3639019, nssv3639017
Samples
Known GenesF2RL2, IQGAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026257
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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