A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6517948



Internal ID20891309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7049387..7300268hg38UCSC Ensembl
chr18:7049386..7300266hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38250882
hg19250881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18197131
Samples
Known GenesLAMA1, LRRC30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6517948
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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