A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6341002



Internal ID20998555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30230001..30233200hg38UCSC Ensembl
chr2:30452867..30456066hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208185
Samples
Known GenesLBH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6341002
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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