A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151171



Internal ID15878302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211448675..211513517hg38UCSC Ensembl
Innerchr2:212313400..212378242hg19UCSC Ensembl
Innerchr2:212021645..212086487hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3864843
hg1964843
hg1864843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584317
Supporting Variants
SamplesHGDP01177
Known GenesERBB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151171
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