A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4225



Internal ID15202227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8589307..8667611hg38UCSC Ensembl
Outerchr4:8591034..8669337hg19UCSC Ensembl
Outerchr4:8641934..8720237hg18UCSC Ensembl
Outerchr4:8709105..8787408hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3810275
hg1910275
hg1810275
hg1710275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv368, nssv3124, nssv3233, nssv10392, nssv367, nssv4724, nssv4726, nssv10393, nssv7064
SamplesNA12156, NA12878, NA18956, NA18555, NA19240, NA19129
Known GenesCPZ, GPR78
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)nsv4225
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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