A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3242



Internal ID15537970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:21145191..21174674hg38UCSC Ensembl
Outerchr4:21146814..21176297hg19UCSC Ensembl
Outerchr4:20755912..20785395hg18UCSC Ensembl
Outerchr4:20823083..20852566hg17UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg3829484
hg1929484
hg1829484
hg1729484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4264
Supporting Variants
SamplesNA12878
Known GenesKCNIP4
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)nssv3242
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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