A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6350667



Internal ID21008220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148119749..148242029hg38UCSC Ensembl
chr2:148877318..148999598hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38122281
hg19122281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18078801
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6350667
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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