A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv879



Internal ID15552900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:107887021..107923837hg38UCSC Ensembl
Outerchr12:108280798..108317614hg19UCSC Ensembl
Outerchr12:106804928..106841744hg18UCSC Ensembl
Outerchr12:106783265..106820081hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384589
hg194589
hg184589
hg174589
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2012, nssv1117, nssv4048
SamplesNA12878, NA18555, NA19240
Known GenesLOC728739
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)nsv879
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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