A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001082



Internal ID68307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75330500..75339550hg38UCSC Ensembl
chr7:74959677..74968773hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg389051
hg199097
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142273
Supporting Variants
Samples
Known GenesPMS2P5, SPDYE8P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001082
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004355


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