A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5127



Internal ID15544126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:127753602..127787084hg38UCSC Ensembl
Outerchr8:128765848..128799330hg19UCSC Ensembl
Outerchr8:128835030..128868512hg18UCSC Ensembl
Outerchr8:128835030..128868512hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385798
hg195798
hg185798
hg175798
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6386
Supporting Variants
SamplesNA19129
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)nssv5127
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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