A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170197



Internal ID21314258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53658177..53725022hg38UCSC Ensembl
Outerchr1:53655200..53727614hg38UCSC Ensembl
Innerchr1:54123850..54190695hg19UCSC Ensembl
Outerchr1:54120873..54193287hg19UCSC Ensembl
Innerchr1:53896438..53963283hg18UCSC Ensembl
Outerchr1:53893461..53965875hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3872415
hg1972415
hg1872415
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14250283
SamplesNGO_25
Known GenesGLIS1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170197
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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