A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv801



Internal ID15552822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:86233594..86282933hg38UCSC Ensembl
Outerchr12:86627372..86676711hg19UCSC Ensembl
Outerchr12:85151503..85200842hg18UCSC Ensembl
Outerchr12:85129840..85179179hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387590
hg197590
hg187590
hg177590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038, nssv1101, nssv5442, nssv2003, nssv6522
SamplesNA12156, NA12878, NA18555, NA19240, NA19129
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)nsv801
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer