A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292394



Internal ID22159939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37031889..37031949hg38UCSC Ensembl
chr2:37259032..37259092hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525566
Supporting Variants
SamplesHG00514
Known GenesHEATR5B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292394
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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