A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007778



Internal ID19096997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125724753..125829069hg38UCSC Ensembl
Innerchr3:125443596..125547912hg19UCSC Ensembl
Innerchr3:126926286..127030602hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38104317
hg19104317
hg18104317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4849n100
Supporting Variantsnssv3604536, nssv3736409
Samples
Known GenesMIR548I1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007778
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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