A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433125



Internal ID21395127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36958638..36960147hg38UCSC Ensembl
chr1:37424239..37425748hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381510
hg191510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14n172
Supporting Variantsnssv15753688, nssv15747468, nssv15746581, nssv15747298, nssv15750803
SamplesBTQ038, BTQ016, SMI041, NB11, NB09
Known GenesGRIK3
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433125
Frequency
Sample Size15
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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