A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2946



Internal ID15547509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:139172754..139217434hg38UCSC Ensembl
Outerchr2:139930324..139975004hg19UCSC Ensembl
Outerchr2:139646794..139691474hg18UCSC Ensembl
Outerchr2:139764056..139808736hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3844681
hg1944681
hg1844681
hg1744681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7559
SamplesNA12156
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)nsv2946
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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