A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458608



Internal ID21116161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53389701..53392400hg38UCSC Ensembl
chr12:53783485..53786184hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001454
Samples
Known GenesSP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458608
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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