A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv883



Internal ID15206218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:108596328..108642050hg38UCSC Ensembl
Outerchr12:108990104..109035826hg19UCSC Ensembl
Outerchr12:107514233..107559955hg18UCSC Ensembl
Outerchr12:107492570..107538292hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3845723
hg1945723
hg1845723
hg1745723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6531
SamplesNA12156
Known GenesSELPLG, TMEM119
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)nsv883
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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