A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875



Internal ID15552896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:107617826..107662933hg38UCSC Ensembl
Outerchr12:108011603..108056710hg19UCSC Ensembl
Outerchr12:106535733..106580840hg18UCSC Ensembl
Outerchr12:106514070..106559177hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3845108
hg1945108
hg1845108
hg1745108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9077
SamplesNA12156
Known GenesBTBD11
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)nsv875
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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