A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355856



Internal ID22581525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6537213..6537304hg38UCSC Ensembl
chr12:6646379..6646470hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5914213
Supporting Variants
Samples
Known GenesGAPDH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355856
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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