A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170238



Internal ID21314299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:48307806..48362343hg38UCSC Ensembl
Outerchr1:48302306..48364835hg38UCSC Ensembl
Innerchr1:48773478..48828015hg19UCSC Ensembl
Outerchr1:48767978..48830507hg19UCSC Ensembl
Innerchr1:48546065..48600602hg18UCSC Ensembl
Outerchr1:48540565..48603094hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3862530
hg1962530
hg1862530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14242368
SamplesMLY_7
Known GenesSPATA6
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170238
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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