A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462904



Internal ID21120457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54459685..54460105hg38UCSC Ensembl
chr12:54853469..54853889hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001502
Samples
Known GenesGTSF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462904
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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