A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6008



Internal ID15191170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:83636117..83668059hg38UCSC Ensembl
Outerchr5:82931936..82963878hg19UCSC Ensembl
Outerchr5:82967692..82999634hg18UCSC Ensembl
Outerchr5:82967692..82999634hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg387488
hg197488
hg187488
hg177488
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4904
Supporting Variants
SamplesNA12156
Known GenesHAPLN1
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)nssv6008
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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