A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337003



Internal ID20994556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137182643..137231517hg38UCSC Ensembl
chr2:137940213..137989087hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3848875
hg1948875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18078007
Samples
Known GenesTHSD7B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337003
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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