A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327444



Internal ID20860583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198159530..198191989hg38UCSC Ensembl
chr1:198128660..198161119hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3832460
hg1932460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18056200
Samples
Known GenesNEK7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327444
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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