A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377476



Internal ID22435346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76878017..76887706hg38UCSC Ensembl
chr1:77343702..77353391hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg389690
hg199690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872167
Supporting Variants
Samples
Known GenesST6GALNAC5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377476
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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