A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485948



Internal ID263327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73203779..73296779hg38UCSC Ensembl
chr7:72617819..72710779hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3893001
hg1992961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998077
Samples
Known GenesGTF2IP1, LOC100093631, NCF1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485948
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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