A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054144



Internal ID18796675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111027559..111099555hg38UCSC Ensembl
Innerchr13:111679906..111751902hg19UCSC Ensembl
Innerchr13:110477907..110549903hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3871997
hg1971997
hg1871997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1742n100
Supporting Variantsnssv3713315, nssv3713314, nssv3713313, nssv3713316, nssv3525594, nssv3525592, nssv3525593, nssv3525596, nssv3525597, nssv3525595, nssv3713312, nssv3713317
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054144
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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