A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047555



Internal ID19136774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19249889..19708806hg38UCSC Ensembl
Innerchr13:19824029..20282946hg19UCSC Ensembl
Innerchr13:18722029..19180946hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38458918
hg19458918
hg18458918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3527564
Samples
Known GenesANKRD26P3, LINC00421, MPHOSPH8, PSPC1, TPTE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047555
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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