A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321546



Internal ID20854653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81800301..81803700hg38UCSC Ensembl
chr1:82265986..82269385hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205123
Samples
Known GenesLPHN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321546
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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