A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329



Internal ID15204541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100174457..100219160hg38UCSC Ensembl
Outerchr8:101186685..101231388hg19UCSC Ensembl
Outerchr8:101255861..101300564hg18UCSC Ensembl
Outerchr8:101255861..101300564hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3844704
hg1944704
hg1844704
hg1744704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8533
SamplesNA12156
Known GenesSPAG1
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)nsv6329
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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