A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220981



Internal ID20788021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72499748..72864951hg38UCSC Ensembl
chr7:71964733..72335515hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38365204
hg19370783
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6610049
Supporting Variants
Samples
Known GenesMIR4650-1, MIR4650-2, SBDSP1, SPDYE7P, TYW1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220981
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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