A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207181



Internal ID20774222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88739501..88795200hg38UCSC Ensembl
chr2:89039018..89094717hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3855700
hg1955700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336734
Supporting Variants
Samples
Known GenesANKRD36BP2, RPIA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207181
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.51344


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