A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141856



Internal ID341055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100218350..100345889hg38UCSC Ensembl
chr7:99815973..99943512hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38127540
hg19127540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000510
Samples
Known GenesGATS, PMS2P1, PVRIG, SPDYE3, STAG3L5P, STAG3L5P-PVRIG2P-PILRB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141856
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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