A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545501



Internal ID15986224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12820292..12855993hg38UCSC Ensembl
Innerchr1:12880153..12915847hg19UCSC Ensembl
Innerchr1:12802740..12838434hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3835702
hg1935695
hg1835695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127n54
Supporting Variantsnssv710136
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545501
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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