A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18004415



Internal ID20571455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7315331..7322323hg38UCSC Ensembl
chr12:7467927..7474919hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386993
hg196993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467399
Supporting Variants
Samples
Known GenesACSM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18004415
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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