A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206994



Internal ID20774034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7011841..7205159hg38UCSC Ensembl
chr2:7151972..7345290hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38193319
hg19193319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346088
Supporting Variants
Samples
Known GenesRNF144A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206994
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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