A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6305



Internal ID15551201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:93044653..93075888hg38UCSC Ensembl
Outerchr8:94056881..94088117hg19UCSC Ensembl
Outerchr8:94126057..94157293hg18UCSC Ensembl
Outerchr8:94126057..94157293hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3831236
hg1931237
hg1831237
hg1731237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3678, nssv8526
SamplesNA12156, NA12878
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)nsv6305
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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