A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18153348



Internal ID20720388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129243312..129246293hg38UCSC Ensembl
chr7:128883153..128886134hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg382982
hg192982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6420649
Supporting Variants
Samples
Known GenesAHCYL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18153348
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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