A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477528



Internal ID255106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55282120..56410000hg38UCSC Ensembl
chr7:55349813..56477693hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg381127881
hg191127881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997548
Samples
Known GenesCCT6A, CHCHD2, FKBP9L, GBAS, LANCL2, MRPS17, NUPR1L, PHKG1, PSPH, SEPT14, SNORA15, SUMF2, VOPP1, ZNF713
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477528
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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