A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326801



Internal ID20859938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96787501..96789300hg38UCSC Ensembl
chr1:97253057..97254856hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18065362
Samples
Known GenesPTBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326801
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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