A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1114



Internal ID15544646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:107295161..107328566hg38UCSC Ensembl
Outerchr12:107688938..107722343hg19UCSC Ensembl
Outerchr12:106213068..106246473hg18UCSC Ensembl
Outerchr12:106191405..106224810hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg387588
hg197588
hg187588
hg177588
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv872
Supporting Variants
SamplesNA19240
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)nssv1114
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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