A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10641



Internal ID15542157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128379818..128411822hg38UCSC Ensembl
Outerchr8:129392064..129424068hg19UCSC Ensembl
Outerchr8:129461246..129493250hg18UCSC Ensembl
Outerchr8:129461246..129493250hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg387498
hg197498
hg187498
hg177498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6390
Supporting Variants
SamplesNA18956
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)nssv10641
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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