A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346088



Internal ID21003641
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 StatusM
Merged Variants
Supporting Variantsnssv18206994
Samples
Known GenesRNF144A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346088
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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