A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4844



Internal ID15196370
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 StatusS
Merged Variantsnsv4872
Supporting Variants
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)nssv4844
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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