A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525566



Internal ID22394944
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292395, nssv14292392, nssv14292393, nssv14292394
SamplesHG00512, HG00732, HG00513, HG00514
Known GenesHEATR5B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525566
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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