A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002624



Internal ID18745156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100621212..100722872hg38UCSC Ensembl
Innerchr3:100340056..100441716hg19UCSC Ensembl
Innerchr3:101822746..101924406hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38101661
hg19101661
hg18101661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4830n100
Supporting Variantsnssv3735207, nssv3604274, nssv3735206, nssv3735205, nssv3604272, nssv3604270, nssv3604273, nssv3604275, nssv3604276, nssv3604271, nssv3604269
Samples
Known GenesGPR128, TFG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002624
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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