A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6335688



Internal ID20993241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3250136..3253365hg38UCSC Ensembl
chr2:3253907..3257136hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383230
hg193230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085324
Samples
Known GenesTSSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6335688
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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