A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3473608



Internal ID19065559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9266587..9344909hg38UCSC Ensembl
Innerchr1:9326646..9404968hg19UCSC Ensembl
Innerchr1:9249233..9327555hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3878323
hg1978323
hg1878323
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013520
Supporting Variants
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)nssv3473608
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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