A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv912174



Internal ID16206130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71643909..71682233hg38UCSC Ensembl
Innerchr2:71871039..71909363hg19UCSC Ensembl
Innerchr2:71724547..71762871hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3838325
hg1938325
hg1838325
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582201
Supporting Variants
Samples
Known GenesDYSF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv912174
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer