A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2801



Internal ID15541766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:134898930..134903437hg38UCSC Ensembl
Outerchr8:135911173..135915680hg19UCSC Ensembl
Outerchr8:135980355..135984862hg18UCSC Ensembl
Outerchr8:135980355..135984862hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg389719
hg199719
hg189719
hg179719
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408
Supporting Variants
SamplesNA18555
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)nssv2801
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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