A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003328



Internal ID20570368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7503174..7673287hg38UCSC Ensembl
chr12:7655770..7825883hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38170114
hg19170114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472025
Supporting Variants
Samples
Known GenesAPOBEC1, CD163
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003328
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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