A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1092



Internal ID15198026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:62472555..62507671hg38UCSC Ensembl
Outerchr12:62866335..62901451hg19UCSC Ensembl
Outerchr12:61152602..61187718hg18UCSC Ensembl
Outerchr12:61152602..61187718hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg385874
hg195874
hg185874
hg175874
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv739
Supporting Variants
SamplesNA19240
Known GenesMON2
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)nssv1092
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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