A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17479377



Internal ID22537279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6374432..6384823hg38UCSC Ensembl
chr19:6374443..6384834hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3810392
hg1910392
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882330
Supporting Variants
Samples
Known GenesALKBH7, GTF2F1, PSPN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17479377
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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