A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505177



Internal ID281959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27006746..27007496hg38UCSC Ensembl
chr12:27159679..27160429hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38751
hg19751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055500
Samples
Known GenesTM7SF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505177
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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