A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv620



Internal ID15551085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:15208826..15236946hg38UCSC Ensembl
Outerchr12:15361760..15389880hg19UCSC Ensembl
Outerchr12:15253027..15281147hg18UCSC Ensembl
Outerchr12:15253027..15281147hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3811379
hg1911379
hg1811379
hg1711379
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10852
SamplesNA18956
Known GenesRERG
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)nsv620
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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