A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6013062



Internal ID21922405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55741191..56375181hg38UCSC Ensembl
chr7:55808884..56442874hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38633991
hg19633991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17570148
Samples
Known GenesCCT6A, CHCHD2, GBAS, MRPS17, NUPR1L, PHKG1, PSPH, SEPT14, SNORA15, SUMF2, ZNF713
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6013062
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer