A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18223629



Internal ID20790670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75153301..75157000hg38UCSC Ensembl
chr7:74569107..74572806hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6609379
Supporting Variants
Samples
Known GenesNCF1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18223629
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0008


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