A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6325974



Internal ID20859108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196347301..196348600hg38UCSC Ensembl
chr1:196316431..196317730hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18055594
Samples
Known GenesKCNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6325974
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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