A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965



Internal ID15206300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6253120..6297822hg38UCSC Ensembl
Outerchr1:6313180..6357882hg19UCSC Ensembl
Outerchr1:6235767..6280469hg18UCSC Ensembl
Outerchr1:6247446..6292148hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3844703
hg1944703
hg1844703
hg1744703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7223
SamplesNA12156
Known GenesACOT7, GPR153
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)nsv965
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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