A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6522



Internal ID15537341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:86255160..86282933hg38UCSC Ensembl
Outerchr12:86648938..86676711hg19UCSC Ensembl
Outerchr12:85173069..85200842hg18UCSC Ensembl
Outerchr12:85151406..85179179hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387590
hg197590
hg187590
hg177590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv801
Supporting Variants
SamplesNA12156
Known GenesMGAT4C
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)nssv6522
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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