A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18232029



Internal ID20799069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95431501..95437900hg38UCSC Ensembl
chr7:95060813..95067212hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6616491
Supporting Variants
Samples
Known GenesPON2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18232029
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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