A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17570148



Internal ID21762191
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 StatusS
Merged Variantsnsv6013062
Supporting Variants
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)nssv17570148
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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