A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467258



Internal ID22525149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56350278..56351777hg38UCSC Ensembl
chr12:56744062..56745561hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5867107
Supporting Variants
Samples
Known GenesSTAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467258
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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