A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202765



Internal ID20769805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230482037..231277187hg38UCSC Ensembl
chr1:230617783..231412933hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38795151
hg19795151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325572
Supporting Variants
Samples
Known GenesAGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, FAM89A, GNPAT, LOC149373, MIR1182, TRIM67, TTC13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202765
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer