A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169917



Internal ID21313728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155219369..155231273hg38UCSC Ensembl
Outerchr1:155210675..155241876hg38UCSC Ensembl
Innerchr1:155189160..155201064hg19UCSC Ensembl
Outerchr1:155180466..155211667hg19UCSC Ensembl
Innerchr1:153455784..153467688hg18UCSC Ensembl
Outerchr1:153447090..153478291hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3831202
hg1931202
hg1831202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14247150
SamplesNGO_10
Known GenesGBA, GBAP1, MTX1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169917
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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