A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5240



Internal ID15203344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29870682..29960781hg38UCSC Ensembl
Outerchr6:29838459..29928558hg19UCSC Ensembl
Outerchr6:29946438..30036537hg18UCSC Ensembl
Outerchr6:29946438..30036537hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3890100
hg1990100
hg1890100
hg1790100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4903
SamplesNA19129
Known GenesHCG4B, HLA-A, HLA-H
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)nsv5240
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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