A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048889



Internal ID19138108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19442474..19572361hg38UCSC Ensembl
Innerchr13:20016614..20146501hg19UCSC Ensembl
Innerchr13:18914614..19044501hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38129888
hg19129888
hg18129888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3527567
Samples
Known GenesTPTE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048889
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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