A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001002



Internal ID68237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74746779..74790500hg38UCSC Ensembl
chr7:74161117..74204843hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3843722
hg1943727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142448
Supporting Variants
Samples
Known GenesGTF2I, NCF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006927


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