A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002787



Internal ID19092004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9270420..9342344hg38UCSC Ensembl
Innerchr1:9330479..9402403hg19UCSC Ensembl
Innerchr1:9253066..9324990hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3871925
hg1971925
hg1871925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17n100
Supporting Variantsnssv3464072, nssv3463101, nssv3697889, nssv3479652
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)nsv1002787
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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