A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349092



Internal ID21006645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171996546..172001370hg38UCSC Ensembl
chr2:172861453..172866277hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384825
hg194825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18080401
Samples
Known GenesMETAP1D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349092
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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