A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342755



Internal ID21000308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171333051..171336199hg38UCSC Ensembl
chr2:172189561..172192709hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383149
hg193149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18080377
Samples
Known GenesMETTL8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342755
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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