A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340526



Internal ID20998079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137995238..138000878hg38UCSC Ensembl
chr2:138752808..138758448hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg385641
hg195641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18077196
Samples
Known GenesHNMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340526
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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