A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv903



Internal ID15206238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120054942..120061323hg38UCSC Ensembl
Outerchr12:120492746..120499127hg19UCSC Ensembl
Outerchr12:118977129..118983510hg18UCSC Ensembl
Outerchr12:118955466..118961847hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3821219
hg1921219
hg1821219
hg1721219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2016
SamplesNA18555
Known GenesCCDC64
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)nsv903
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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