A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001806



Internal ID20568846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55711274..55714159hg38UCSC Ensembl
chr12:56105058..56107943hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg382886
hg192886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473705
Supporting Variants
Samples
Known GenesITGA7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001806
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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