A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8060



Internal ID15535804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:211020382..211037229hg38UCSC Ensembl
Outerchr1:211193724..211210571hg19UCSC Ensembl
Outerchr1:209260347..209277194hg18UCSC Ensembl
Outerchr1:207582119..207598966hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3816848
hg1916848
hg1816848
hg1716848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4410
Supporting Variants
SamplesNA12156
Known GenesKCNH1
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)nssv8060
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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