A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10220



Internal ID15542578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88850129..89150100hg38UCSC Ensembl
Outerchr2:89149642..89449584hg19UCSC Ensembl
Outerchr2:88930757..89230699hg18UCSC Ensembl
Outerchr2:88988904..89288846hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38299972
hg19299943
hg18299943
hg17299943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2824
Supporting Variants
SamplesNA18956
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)nssv10220
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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