A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3472902



Internal ID19065205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9266587..9350186hg38UCSC Ensembl
Innerchr1:9326646..9410245hg19UCSC Ensembl
Innerchr1:9249233..9332832hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3883600
hg1983600
hg1883600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012017
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)nssv3472902
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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