A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8176



Internal ID15535688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157761330..157785442hg38UCSC Ensembl
Outerchr5:157188338..157212450hg19UCSC Ensembl
Outerchr5:157120916..157145028hg18UCSC Ensembl
Outerchr5:157120916..157145028hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg386184
hg196184
hg186184
hg176184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5090
Supporting Variants
SamplesNA12156
Known Genes
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)nssv8176
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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