A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348530



Internal ID21006083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43600138..43756730hg38UCSC Ensembl
chr2:43827277..43983869hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38156593
hg19156593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18088574
Samples
Known GenesLOC728819, PLEKHH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348530
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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