A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321534



Internal ID20854641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64562394..64564366hg38UCSC Ensembl
chr1:65028077..65030049hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381973
hg191973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18062426
Samples
Known GenesCACHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321534
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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