A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344502



Internal ID21002055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188446395..188446701hg38UCSC Ensembl
chr2:189311122..189311428hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082847
Samples
Known GenesGULP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344502
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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