A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290767



Internal ID22254045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75550509..75586101hg38UCSC Ensembl
chr2:75777635..75813227hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3835593
hg1935593
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199331
Supporting Variants
SamplesNA19238
Known GenesEVA1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290767
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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