A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011293



Internal ID19100510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85804966..85951289hg38UCSC Ensembl
Innerchr1:86270649..86416972hg19UCSC Ensembl
Innerchr1:86043237..86189560hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38146324
hg19146324
hg18146324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3699596
Samples
Known GenesCOL24A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011293
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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