A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10212



Internal ID15542586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:59380681..59410012hg38UCSC Ensembl
Outerchr2:59607816..59637147hg19UCSC Ensembl
Outerchr2:59461320..59490651hg18UCSC Ensembl
Outerchr2:59519467..59548798hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3829332
hg1929332
hg1829332
hg1729332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2745
Supporting Variants
SamplesNA18956
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)nssv10212
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