A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998186



Internal ID19157723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150356000..150456343hg38UCSC Ensembl
Innerchr1:150328476..150428819hg19UCSC Ensembl
Innerchr1:148595100..148695443hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38100344
hg19100344
hg18100344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv414n100
Supporting Variantsnssv3498758
Samples
Known GenesRPRD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998186
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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