A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004887



Internal ID18747418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100621212..100701407hg38UCSC Ensembl
Innerchr3:100340056..100420251hg19UCSC Ensembl
Innerchr3:101822746..101902941hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3880196
hg1980196
hg1880196
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4831n100
Supporting Variantsnssv3604238
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)nsv1004887
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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