A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17495629



Internal ID22553562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141387857..141398537hg38UCSC Ensembl
chr5:140767424..140778104hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3810681
hg1910681
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5841706
Supporting Variants
Samples
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17495629
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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