A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359120



Internal ID22584789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30056106..30062104hg38UCSC Ensembl
chr12:30209039..30215037hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg385999
hg195999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5924875
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359120
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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