A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13711531



Internal ID21233289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31849861..31849976hg38UCSC Ensembl
chr5:31849967..31850082hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2812738
Supporting Variants
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13711531
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.765625


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