A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17994138



Internal ID20561178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77343135..77343767hg38UCSC Ensembl
chr11:77054180..77054812hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38633
hg19633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473082
Supporting Variants
Samples
Known GenesPAK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17994138
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00024


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