A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17457587



Internal ID22515468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52647344..52650900hg38UCSC Ensembl
chr12:53041128..53044684hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383557
hg193557
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5855377
Supporting Variants
Samples
Known GenesKRT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17457587
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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