A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6889



Internal ID15536974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179194994..179230991hg38UCSC Ensembl
Outerchr2:180059721..180095718hg19UCSC Ensembl
Outerchr2:179767966..179803963hg18UCSC Ensembl
Outerchr2:179885227..179921224hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3835998
hg1935998
hg1835998
hg1735998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3061
Supporting Variants
SamplesNA12156
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)nssv6889
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