A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1117



Internal ID15544637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:107901685..107923837hg38UCSC Ensembl
Outerchr12:108295462..108317614hg19UCSC Ensembl
Outerchr12:106819592..106841744hg18UCSC Ensembl
Outerchr12:106797929..106820081hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg387945
hg197945
hg187945
hg177945
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv879
Supporting Variants
SamplesNA19240
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)nssv1117
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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