A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2592



Internal ID15547155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6150516..6197240hg38UCSC Ensembl
Outerchr2:6290648..6337372hg19UCSC Ensembl
Outerchr2:6208099..6254823hg18UCSC Ensembl
Outerchr2:6241246..6287970hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3846725
hg1946725
hg1846725
hg1746725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1477
SamplesNA19240
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)nsv2592
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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