A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5257



Internal ID15550048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34957536..35002324hg38UCSC Ensembl
Outerchr6:34925313..34970101hg19UCSC Ensembl
Outerchr6:35033291..35078079hg18UCSC Ensembl
Outerchr6:35033291..35078079hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3844789
hg1944789
hg1844789
hg1744789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8231
SamplesNA12156
Known GenesANKS1A
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)nsv5257
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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