A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6318288



Internal ID20851380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193077134..193077584hg38UCSC Ensembl
chr1:193046264..193046714hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18055555
Samples
Known GenesTROVE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6318288
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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