A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4795



Internal ID15543145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:163651008..163681790hg38UCSC Ensembl
Outerchr1:163620739..163651515hg19UCSC Ensembl
Outerchr1:161887363..161918139hg18UCSC Ensembl
Outerchr1:160352397..160383173hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg388508
hg198508
hg188508
hg178508
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3343
Supporting Variants
SamplesNA19129
Known Genes
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)nssv4795
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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