A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999816



Internal ID19159352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9266587..9347104hg38UCSC Ensembl
Innerchr1:9326646..9407163hg19UCSC Ensembl
Innerchr1:9249233..9329750hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3880518
hg1980518
hg1880518
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17n100
Supporting Variantsnssv3463041
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999816
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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