A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3950664



Internal ID21370733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162791518..162791518hg38UCSC Ensembl
chr1:162761308..162761308hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15187850
SamplesHG002
Known GenesHSD17B7
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3950664
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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