A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4016182



Internal ID22077813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212351707..212438023hg38UCSC Ensembl
Outerchr2:212345485..212445119hg38UCSC Ensembl
Innerchr2:213216431..213302747hg19UCSC Ensembl
Outerchr2:213210209..213309843hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3899635
hg1999635
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155917
Supporting Variants
Samples
Known GenesERBB4, MIR548F2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4016182
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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