A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5281



Internal ID8517057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43611090..43655905hg38UCSC Ensembl
Outerchr6:43578827..43623642hg19UCSC Ensembl
Outerchr6:43686805..43731620hg18UCSC Ensembl
Outerchr6:43686805..43731620hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3844816
hg1944816
hg1844816
hg1744816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8243
SamplesNA12156
Known GenesGTPBP2, MAD2L1BP, POLH, RSPH9
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)nsv5281
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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