A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125203



Internal ID20692243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140949872..141050529hg38UCSC Ensembl
chr5:140329457..140430114hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38100658
hg19100658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414972
Supporting Variants
Samples
Known GenesLOC101926905, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125203
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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