A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204975



Internal ID20772015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29445909..29773499hg38UCSC Ensembl
chr22:29841898..30169488hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38327591
hg19327591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6538774
Supporting Variants
Samples
Known GenesCABP7, NEFH, NF2, NIPSNAP1, THOC5, UQCR10, ZMAT5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204975
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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