A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1993



Internal ID15541276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40504428..40525599hg38UCSC Ensembl
Outerchr12:40898230..40919401hg19UCSC Ensembl
Outerchr12:39184497..39205668hg18UCSC Ensembl
Outerchr12:39184497..39205668hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387634
hg197634
hg187634
hg177634
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv682
Supporting Variants
SamplesNA18555
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)nssv1993
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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