A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344142



Internal ID21001695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54194610..54271139hg38UCSC Ensembl
chr2:54421747..54498276hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3876530
hg1976530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087512
Samples
Known GenesACYP2, TSPYL6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344142
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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