A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4435704



Internal ID21397706
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 Variantsdgv877n172
Supporting Variantsnssv15747223, nssv15752558, nssv15753806, nssv15751226, nssv15748154, nssv15750128, nssv15749637, nssv15745736, nssv15753715, nssv15747058, nssv15750639, nssv15752742
SamplesNB12, SMI034, NB08, MDQ045, BTQ038, NB10, BTQ016, NB11, NB07, SMI018, MDQ025, NB09
Known GenesCACNA1B
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4435704
Frequency
Sample Size15
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer