A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340057



Internal ID20997610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28926552..28927566hg38UCSC Ensembl
chr2:29149418..29150432hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg381015
hg191015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18088144
Samples
Known GenesSNORD53, WDR43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340057
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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