A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954



Internal ID15552975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:57357468..57400127hg38UCSC Ensembl
Outerchr1:57823140..57865799hg19UCSC Ensembl
Outerchr1:57595728..57638387hg18UCSC Ensembl
Outerchr1:57535161..57577820hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3842660
hg1942660
hg1842660
hg1742660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9167
SamplesNA12156
Known GenesDAB1
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)nsv954
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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