A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357869



Internal ID22583538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29998952..30003204hg38UCSC Ensembl
chr12:30151885..30156137hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg384253
hg194253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5921886
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357869
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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