A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv902



Internal ID15206237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:119138307..119183335hg38UCSC Ensembl
Outerchr12:119576112..119621140hg19UCSC Ensembl
Outerchr12:118060495..118105523hg18UCSC Ensembl
Outerchr12:118038832..118083860hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3845029
hg1945029
hg1845029
hg1745029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9085
SamplesNA12156
Known GenesHSPB8, SRRM4
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)nsv902
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