A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329342



Internal ID20862494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99480115..99844212hg38UCSC Ensembl
chr1:99945671..100309768hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38364098
hg19364098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18066172
Samples
Known GenesFRRS1, MIR548AA1, MIR548D1, PALMD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329342
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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