A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027244



Internal ID19116463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:53335677..53348946hg38UCSC Ensembl
Innerchr5:52631507..52644776hg19UCSC Ensembl
Innerchr5:52667264..52680533hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3813270
hg1913270
hg1813270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3745980
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027244
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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