A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8105



Internal ID15535759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:57187767..57221005hg38UCSC Ensembl
Outerchr5:56483594..56516832hg19UCSC Ensembl
Outerchr5:56519351..56552589hg18UCSC Ensembl
Outerchr5:56519351..56552589hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386189
hg196189
hg186189
hg176189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4837
Supporting Variants
SamplesNA12156
Known GenesGPBP1
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)nssv8105
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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