A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6850



Internal ID15190328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:74364517..74380412hg38UCSC Ensembl
Outerchr2:74591644..74607539hg19UCSC Ensembl
Outerchr2:74445152..74461047hg18UCSC Ensembl
Outerchr2:74503299..74519194hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3815896
hg1915896
hg1815896
hg1715896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2784
Supporting Variants
SamplesNA12156
Known GenesDCTN1
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)nssv6850
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