A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199284



Internal ID20766324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112702675..113232556hg38UCSC Ensembl
chr1:113245297..113775178hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38529882
hg19529882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327688
Supporting Variants
Samples
Known GenesAKR7A2P1, FAM19A3, LOC100996251, LOC100996702, LOC643441, LRIG2, PPM1J, RHOC, SLC16A1, SLC16A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199284
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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