A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6124



Internal ID15204316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25193915..25228296hg38UCSC Ensembl
Outerchr8:25051431..25085812hg19UCSC Ensembl
Outerchr8:25107348..25141729hg18UCSC Ensembl
Outerchr8:25107348..25141729hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3834382
hg1934382
hg1834382
hg1734382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4611, nssv1727, nssv3635
SamplesNA19129, NA12878, NA18555
Known GenesDOCK5
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)nsv6124
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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