A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6414972



Internal ID21072525
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 StatusM
Merged Variants
Supporting Variantsnssv18125203
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)nsv6414972
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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