A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2872



Internal ID15200749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108803911..108838398hg38UCSC Ensembl
Outerchr2:109420367..109454854hg19UCSC Ensembl
Outerchr2:108786799..108821286hg18UCSC Ensembl
Outerchr2:108878885..108913372hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg385257
hg195257
hg185257
hg175257
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4445
SamplesNA12878
Known GenesCCDC138
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)nsv2872
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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