A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368604



Internal ID22594273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75104466..75104636hg38UCSC Ensembl
chr12:75498246..75498416hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941212
Supporting Variants
Samples
Known GenesKCNC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368604
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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