A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006045



Internal ID18748576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100621212..100709093hg38UCSC Ensembl
Innerchr3:100340056..100427937hg19UCSC Ensembl
Innerchr3:101822746..101910627hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3887882
hg1987882
hg1887882
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4831n100
Supporting Variantsnssv3604247, nssv3604251, nssv3735198, nssv3604252, nssv3735199, nssv3735200, nssv3604266, nssv3604264, nssv3604246, nssv3604257, nssv3735201, nssv3604260, nssv3604254, nssv3735192, nssv3604259, nssv3735194, nssv3735195, nssv3604262, nssv3604253, nssv3604250, nssv3735193, nssv3604265, nssv3604258, nssv3604256, nssv3604267, nssv3735204, nssv3604261, nssv3604268, nssv3604249, nssv3604263, nssv3735202, nssv3604244, nssv3735197, nssv3735196, nssv3604255, nssv3604248, nssv3604245, nssv3604243, nssv3735203, nssv3604242
Samples
Known GenesGPR128
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006045
Frequency
Sample Size29084
Observed Gain40
Observed Loss0
Observed Complex0
Frequencyn/a


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