A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv728



Internal ID15552273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58064569..58105755hg38UCSC Ensembl
Outerchr12:58458352..58499538hg19UCSC Ensembl
Outerchr12:56744619..56785805hg18UCSC Ensembl
Outerchr12:56744619..56785805hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg389904
hg199904
hg189904
hg179904
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5426, nssv2000, nssv10867, nssv10903, nssv1087, nssv9838, nssv6508
SamplesNA18507, NA12156, NA18956, NA15510, NA18555, NA19240, NA19129
Known Genes
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)nsv728
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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