A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340447



Internal ID20998000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148259111..148262998hg38UCSC Ensembl
chr2:149016680..149020567hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg383888
hg193888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079369
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340447
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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