A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17457725



Internal ID22515606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214472946..214500075hg38UCSC Ensembl
chr1:214646289..214673418hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3827130
hg1927130
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829114
Supporting Variants
Samples
Known GenesPTPN14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17457725
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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