A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487005



Internal ID264354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28971005..29835164hg38UCSC Ensembl
chr7:29010621..29874780hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38864160
hg19864160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994628
Samples
Known GenesCHN2, CPVL, DPY19L2P3, LOC100506497, LOC646762, MIR550A3, PRR15, WIPF3, ZNRF2P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487005
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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