A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6350529



Internal ID21008082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191253316..191261264hg38UCSC Ensembl
chr2:192118042..192125990hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg387949
hg197949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083863
Samples
Known GenesMYO1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6350529
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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