A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001156



Internal ID20568196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42496671..42496981hg38UCSC Ensembl
chr12:42890473..42890783hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467389
Supporting Variants
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001156
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00064


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