A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10902



Internal ID15539490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40486447..40502387hg38UCSC Ensembl
Outerchr12:40880249..40896189hg19UCSC Ensembl
Outerchr12:39166516..39182456hg18UCSC Ensembl
Outerchr12:39166516..39182456hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3812235
hg1912235
hg1812235
hg1712235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv682
Supporting Variants
SamplesNA15510
Known GenesMUC19
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)nssv10902
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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