A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8994



Internal ID15534870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5166726..5211954hg38UCSC Ensembl
Outerchr12:5275892..5321120hg19UCSC Ensembl
Outerchr12:5146153..5191381hg18UCSC Ensembl
Outerchr12:5146153..5191381hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3845229
hg1945229
hg1845229
hg1745229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv590
Supporting Variants
SamplesNA12156
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)nssv8994
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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