A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9357



Internal ID15540308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179192861..179220097hg38UCSC Ensembl
Outerchr2:180057588..180084824hg19UCSC Ensembl
Outerchr2:179765833..179793069hg18UCSC Ensembl
Outerchr2:179883094..179910330hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3827237
hg1927237
hg1827237
hg1727237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3061
Supporting Variants
SamplesNA18517
Known GenesSESTD1
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)nssv9357
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