A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9242



Internal ID15534622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65530943..65568815hg38UCSC Ensembl
Outerchr1:65996626..66034498hg19UCSC Ensembl
Outerchr1:65769214..65807086hg18UCSC Ensembl
Outerchr1:65708647..65746519hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3837873
hg1937873
hg1837873
hg1737873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1188
Supporting Variants
SamplesNA12156
Known GenesLEPR
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)nssv9242
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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