A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481265



Internal ID22539169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182119073..182123330hg38UCSC Ensembl
chr2:182983800..182988057hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg384258
hg194258
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832283
Supporting Variants
Samples
Known GenesPPP1R1C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481265
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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