A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186827



Internal ID21325658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5144400..5144400hg38UCSC Ensembl
chr19:5144411..5144411hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3944564
Supporting Variants
SamplesHG002
Known GenesKDM4B
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186827
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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