A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321644



Internal ID20854752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214401..293900hg38UCSC Ensembl
chr2:214401..293900hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3879500
hg1979500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208172
Samples
Known GenesACP1, FAM150B, SH3YL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321644
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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