A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003035



Internal ID19092252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190154065..190322424hg38UCSC Ensembl
Innerchr1:190123195..190291554hg19UCSC Ensembl
Innerchr1:188389818..188558177hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38168360
hg19168360
hg18168360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3488015
Samples
Known GenesBRINP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003035
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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