A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545452



Internal ID16332861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12775725..12854043hg38UCSC Ensembl
Innerchr1:12835868..12913896hg19UCSC Ensembl
Innerchr1:12758455..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3878319
hg1978029
hg1878029
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117n54
Supporting Variantsnssv1173681, nssv710028, nssv710029, nssv1173682, nssv1173683
Samples1780862077_A, HGDP01366, HGDP00007
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545452
Frequency
Sample Size17421
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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