A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009624



Internal ID18752155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179453928..179490541hg38UCSC Ensembl
Innerchr1:179423063..179459676hg19UCSC Ensembl
Innerchr1:177689686..177726299hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3836614
hg1936614
hg1836614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv471n100
Supporting Variantsnssv3487415
Samples
Known GenesAXDND1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009624
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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