A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6285



Internal ID15551179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85763417..85854035hg38UCSC Ensembl
Outerchr8:86775646..86866264hg19UCSC Ensembl
Outerchr8:86860499..86935353hg18UCSC Ensembl
Outerchr8:86860499..86935353hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3890619
hg1990619
hg1874855
hg1774855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3669, nssv11192, nssv749, nssv10633
SamplesNA12878, NA18956, NA15510, NA19240
Known GenesREXO1L1, REXO1L2P
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)nsv6285
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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