A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18004426



Internal ID20571466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7326443..7326833hg38UCSC Ensembl
chr12:7479039..7479429hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466640
Supporting Variants
Samples
Known GenesACSM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18004426
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0009


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