A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001055



Internal ID68283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75083779..75185779hg38UCSC Ensembl
chr7:74499593..74601500hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38102001
hg19101908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141995
Supporting Variants
Samples
Known GenesGTF2IP1, GTF2IRD2, GTF2IRD2B, LOC100093631, NCF1C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001055
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009821


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