A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199280



Internal ID20766320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112605922..112626830hg38UCSC Ensembl
chr1:113148544..113169452hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3820909
hg1920909
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319478
Supporting Variants
Samples
Known GenesCAPZA1, ST7L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199280
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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