A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463649



Internal ID22521535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14934983..14938319hg38UCSC Ensembl
chr12:15087917..15091253hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg383337
hg193337
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5857309
Supporting Variants
Samples
Known GenesERP27
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463649
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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