A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv798



Internal ID15552819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:86006044..86053673hg38UCSC Ensembl
Outerchr12:86399822..86447451hg19UCSC Ensembl
Outerchr12:84923953..84971582hg18UCSC Ensembl
Outerchr12:84902290..84949919hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3847630
hg1947630
hg1847630
hg1747630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6520
SamplesNA12156
Known GenesMGAT4C
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)nsv798
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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