A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17518617



Internal ID21842976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75885812..75885812hg38UCSC Ensembl
chr1:76351497..76351497hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6050267
Supporting Variants
Samples
Known GenesMSH4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17518617
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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