A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344542



Internal ID21002095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148316714..148320596hg38UCSC Ensembl
chr2:149074283..149078165hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg383883
hg193883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079372
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344542
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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