A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8571



Internal ID15188607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143194984..143226676hg38UCSC Ensembl
Outerchr8:144276446..144308846hg19UCSC Ensembl
Outerchr8:144347821..144380221hg18UCSC Ensembl
Outerchr8:144347821..144380221hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386486
hg196486
hg186486
hg176486
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6438
Supporting Variants
SamplesNA12156
Known GenesGPIHBP1
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)nssv8571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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