A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319996



Internal ID20853094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236437271..236623760hg38UCSC Ensembl
chr1:236600571..236787060hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38186490
hg19186490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202474
Samples
Known GenesEDARADD, HEATR1, LGALS8, LGALS8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6319996
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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