A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468521



Internal ID22526410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104590206..104597749hg38UCSC Ensembl
chr14:105056543..105064086hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg387544
hg197544
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5857964
Supporting Variants
Samples
Known GenesTMEM179
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468521
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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