A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5126



Internal ID15544127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125577565..125590355hg38UCSC Ensembl
Outerchr8:126589809..126602599hg19UCSC Ensembl
Outerchr8:126658991..126671781hg18UCSC Ensembl
Outerchr8:126658991..126671781hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3812791
hg1912791
hg1812791
hg1712791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6377
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)nssv5126
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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