A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017996



Internal ID18760529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138461691..138480010hg38UCSC Ensembl
Innerchr5:137797380..137815699hg19UCSC Ensembl
Innerchr5:137825279..137843598hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3818320
hg1918320
hg1818320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5813n100
Supporting Variantsnssv3746642, nssv3648136, nssv3648135
Samples
Known GenesEGR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017996
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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