A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4872



Internal ID15202939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:71711821..71744726hg38UCSC Ensembl
Outerchr5:71007648..71040553hg19UCSC Ensembl
Outerchr5:71043404..71076309hg18UCSC Ensembl
Outerchr5:71043404..71076309hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386362
hg196362
hg186362
hg176362
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4844
SamplesNA19129
Known GenesCARTPT
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv4872
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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