A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9859



Internal ID15193244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73785232..73830121hg38UCSC Ensembl
Outerchr2:74012359..74057248hg19UCSC Ensembl
Outerchr2:73865867..73910756hg18UCSC Ensembl
Outerchr2:73924014..73968903hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3844890
hg1944890
hg1844890
hg1744890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2780
Supporting Variants
SamplesNA18507
Known GenesC2orf78, STAMBP
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)nssv9859
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