A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170249



Internal ID21314310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50357538..50502141hg38UCSC Ensembl
Outerchr3:50354487..50511464hg38UCSC Ensembl
Innerchr3:50394969..50539572hg19UCSC Ensembl
Outerchr3:50391918..50548895hg19UCSC Ensembl
Innerchr3:50369973..50514576hg18UCSC Ensembl
Outerchr3:50366922..50523899hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38156978
hg19156978
hg18156978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14242284
SamplesNGO_25
Known GenesCACNA2D2, TMEM115
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170249
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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