A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10242



Internal ID15542556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:146094743..146121801hg38UCSC Ensembl
Outerchr2:146852311..146879369hg19UCSC Ensembl
Outerchr2:146568781..146595839hg18UCSC Ensembl
Outerchr2:146686043..146713101hg17UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3827059
hg1927059
hg1827059
hg1727059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2960
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)nssv10242
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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