A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6301



Internal ID15204511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91172917..91205025hg38UCSC Ensembl
Outerchr8:92185145..92217253hg19UCSC Ensembl
Outerchr8:92254321..92286429hg18UCSC Ensembl
Outerchr8:92254321..92286429hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg387375
hg197375
hg187375
hg177375
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10636
SamplesNA18956
Known GenesLRRC69
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)nsv6301
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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