A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201715



Internal ID20768756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180006276..180725862hg38UCSC Ensembl
chr1:179975411..180694998hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38719587
hg19719588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318478
Supporting Variants
Samples
Known GenesACBD6, CEP350, FLJ23867, LHX4, LOC100527964, MIR3121, QSOX1, XPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201715
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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