A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2099



Internal ID15546662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:99515600..99532572hg38UCSC Ensembl
Outerchr1:99981156..99998128hg19UCSC Ensembl
Outerchr1:99753744..99770716hg18UCSC Ensembl
Outerchr1:99693177..99710149hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg386932
hg196932
hg186932
hg176932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4439
SamplesNA12878
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)nsv2099
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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