A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6516952



Internal ID20890313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6935598..8087852hg38UCSC Ensembl
chr18:6935597..8087850hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg381152255
hg191152254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18197628
Samples
Known GenesLAMA1, LRRC30, PTPRM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6516952
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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