A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv670n172



Internal ID22815044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180948135..181003764hg38UCSC Ensembl
chr5:180375135..180430764hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3855630
hg1955630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4434596, nsv4434597, nsv4434598, nsv4434599
SamplesNB12, SMI034, NB08, NB10, BTQ055, SMI041, NB09
Known GenesBTNL3, BTNL8
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv670n172
Frequency
Sample Size15
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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