A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5779



Internal ID15543628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:23129319..23174298hg38UCSC Ensembl
Outerchr2:23352190..23397169hg19UCSC Ensembl
Outerchr2:23205695..23250674hg18UCSC Ensembl
Outerchr2:23263842..23308821hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3844980
hg1944980
hg1844980
hg1744980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2637
Supporting Variants
SamplesNA19129
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)nssv5779
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