A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7352



Internal ID15189826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89889438..89911416hg38UCSC Ensembl
Outerchr1:90354997..90376975hg19UCSC Ensembl
Outerchr1:90127585..90149563hg18UCSC Ensembl
Outerchr1:90067018..90088996hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3821979
hg1921979
hg1821979
hg1721979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1832
Supporting Variants
SamplesNA12156
Known GenesLRRC8D
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)nssv7352
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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