A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336957



Internal ID20994510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208284405..208285214hg38UCSC Ensembl
chr2:209149129..209149938hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082651
Samples
Known GenesPIKFYVE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336957
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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