A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349641



Internal ID21007194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148648601..148654500hg38UCSC Ensembl
chr2:149406170..149412069hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079398
Samples
Known GenesEPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349641
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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