A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008743



Internal ID18751274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100621212..100700891hg38UCSC Ensembl
Innerchr3:100340056..100419735hg19UCSC Ensembl
Innerchr3:101822746..101902425hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3879680
hg1979680
hg1879680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4831n100
Supporting Variantsnssv3604237
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)nsv1008743
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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