A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547421



Internal ID16334830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825322..108829252hg38UCSC Ensembl
Innerchr1:109367944..109371874hg19UCSC Ensembl
Innerchr1:109169467..109173397hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383931
hg193931
hg183931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv488n54
Supporting Variantsnssv721152, nssv721133, nssv721138, nssv721139, nssv721127, nssv721135, nssv721146, nssv721134, nssv721158, nssv721129, nssv721142, nssv721137, nssv721144, nssv721149, nssv721154, nssv721145, nssv721151, nssv721130, nssv721155, nssv721143, nssv721141, nssv721156, nssv721136, nssv721140, nssv721150, nssv721148, nssv721159, nssv721147, nssv721131, nssv721153, nssv1173103, nssv721128, nssv721132, nssv721157
Samples1780854202_A
Known GenesAKNAD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547421
Frequency
Sample Size17421
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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