A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340923



Internal ID20998476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72284201..72285200hg38UCSC Ensembl
chr2:72511330..72512329hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089641
Samples
Known GenesEXOC6B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340923
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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