A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv621



Internal ID15204410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40998350..41011865hg38UCSC Ensembl
Outerchr1:41464022..41477537hg19UCSC Ensembl
Outerchr1:41236609..41250124hg18UCSC Ensembl
Outerchr1:41133115..41146630hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3813516
hg1913516
hg1813516
hg1713516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9060
SamplesNA12156
Known GenesCTPS1
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)nsv621
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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