A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340078



Internal ID20997631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171386522..171487524hg38UCSC Ensembl
chr2:172243032..172344034hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38101003
hg19101003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18080380
Samples
Known GenesDCAF17, METTL8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340078
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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