A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027861



Internal ID19117079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45499740..46251204hg38UCSC Ensembl
Innerchr5:45499842..46251306hg19UCSC Ensembl
Innerchr5:45535599..46287063hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38751465
hg19751465
hg18751465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5638n100
Supporting Variantsnssv3745971
Samples
Known GenesHCN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027861
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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