A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv877n172



Internal ID22815251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137882549..137891548hg38UCSC Ensembl
chr9:140777001..140786000hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg389000
hg199000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4435704, nsv4435703, nsv4435702
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, NB10, BTQ055, MDQ010, BTQ016, NB11, NB07, SMI018, MDQ025, NB09
Known GenesCACNA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv877n172
Frequency
Sample Size15
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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