A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591414



Internal ID16378823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123448402..123450009hg38UCSC Ensembl
Innerchr3:123167249..123168856hg19UCSC Ensembl
Innerchr3:124649939..124651546hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381608
hg191608
hg181608
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971783, nssv971779, nssv971785, nssv971784, nssv971778, nssv971780, nssv971777, nssv971782, nssv971786, nssv971781
Samples
Known GenesADCY5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591414
Frequency
Sample Size17421
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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