A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481600



Internal ID22539504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95145227..95146626hg38UCSC Ensembl
chr1:95610783..95612182hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830549
Supporting Variants
Samples
Known GenesTMEM56, TMEM56-RWDD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481600
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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