A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481214



Internal ID22539118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74426679..74427878hg38UCSC Ensembl
chr1:74892363..74893562hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830645
Supporting Variants
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481214
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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