A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6324940



Internal ID20858070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62174290..62202220hg38UCSC Ensembl
chr1:62639962..62667892hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3827931
hg1927931
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203657
Samples
Known GenesL1TD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6324940
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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