A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358285



Internal ID22583954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6884674..6884724hg38UCSC Ensembl
chr12:6993838..6993888hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5924284
Supporting Variants
Samples
Known GenesDSTNP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358285
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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