A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186692



Internal ID21325516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163344641..163344641hg38UCSC Ensembl
chr1:163314431..163314431hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927173
Supporting Variants
SamplesHG002
Known GenesNUF2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186692
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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