A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001063



Internal ID68291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75122500..75128779hg38UCSC Ensembl
chr7:74538301..74544580hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg386280
hg196280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142046
Supporting Variants
Samples
Known GenesGTF2IRD2, GTF2IRD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001063
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.066498


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