A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441163



Internal ID22499033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46162518..46162518hg38UCSC Ensembl
chr6:46130255..46130255hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961893
Supporting Variants
Samples
Known GenesENPP5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441163
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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