A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4378



Internal ID15202395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70073418..70125283hg38UCSC Ensembl
Outerchr4:70939135..70991000hg19UCSC Ensembl
Outerchr4:70973724..71025589hg18UCSC Ensembl
Outerchr4:71119895..71171760hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg384833
hg194833
hg184833
hg174833
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3261, nssv3130
SamplesNA12878, NA18555
Known GenesCSN1S2AP
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)nsv4378
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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