A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6232



Internal ID15537631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:84724503..84757498hg38UCSC Ensembl
Outerchr8:85636738..85669733hg19UCSC Ensembl
Outerchr8:85799293..85832288hg18UCSC Ensembl
Outerchr8:85799293..85832288hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg386446
hg196446
hg186446
hg176446
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6283
Supporting Variants
SamplesNA12156
Known GenesRALYL
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)nssv6232
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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