A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4323



Internal ID15549021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:45687957..45711488hg38UCSC Ensembl
Outerchr4:45689974..45713505hg19UCSC Ensembl
Outerchr4:45384731..45408262hg18UCSC Ensembl
Outerchr4:45530902..45554433hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3823532
hg1923532
hg1823532
hg1723532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7949
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)nsv4323
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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