A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5457



Internal ID15197015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122977362..123008698hg38UCSC Ensembl
Outerchr12:123461909..123493245hg19UCSC Ensembl
Outerchr12:122027862..122059198hg18UCSC Ensembl
Outerchr12:121986789..122018125hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg387944
hg197944
hg187944
hg177944
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv914
Supporting Variants
SamplesNA19129
Known GenesARL6IP4, OGFOD2, PITPNM2
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)nssv5457
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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