A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4478



Internal ID15539205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172295567..172335385hg38UCSC Ensembl
Outerchr2:173160295..173200113hg19UCSC Ensembl
Outerchr2:172868541..172908359hg18UCSC Ensembl
Outerchr2:172985802..173025620hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3839819
hg1939819
hg1839819
hg1739819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3034
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)nssv4478
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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