A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10256



Internal ID15542542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176395271..176418610hg38UCSC Ensembl
Outerchr2:177259999..177283338hg19UCSC Ensembl
Outerchr2:176968245..176991584hg18UCSC Ensembl
Outerchr2:177085506..177108845hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3823340
hg1923340
hg1823340
hg1723340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3048
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)nssv10256
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