A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027380



Internal ID19116599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45390567..45491499hg38UCSC Ensembl
Innerchr5:45390669..45491601hg19UCSC Ensembl
Innerchr5:45426426..45527358hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38100933
hg19100933
hg18100933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3637109
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)nsv1027380
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer