A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812764



Internal ID21258102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42165828..42167668hg38UCSC Ensembl
chr5:42165930..42167770hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381841
hg191841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13710486
Samples
Known GenesLOC101926960
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812764
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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