A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004522



Internal ID18747053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109338181..109395691hg38UCSC Ensembl
Innerchr1:109880803..109938313hg19UCSC Ensembl
Innerchr1:109682326..109739836hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3857511
hg1957511
hg1857511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252n100
Supporting Variantsnssv3488469
Samples
Known GenesSORT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004522
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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