A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4467



Internal ID15539194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:146096526..146125059hg38UCSC Ensembl
Outerchr2:146854094..146882627hg19UCSC Ensembl
Outerchr2:146570564..146599097hg18UCSC Ensembl
Outerchr2:146687826..146716359hg17UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3828534
hg1928534
hg1828534
hg1728534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2960
Supporting Variants
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)nssv4467
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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