A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205501



Internal ID20772541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147911219..147980890hg38UCSC Ensembl
chr2:148668788..148738459hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3869672
hg1969672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351974
Supporting Variants
Samples
Known GenesACVR2A, ORC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205501
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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