A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545510



Internal ID16332919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12839881..12858964hg38UCSC Ensembl
Innerchr1:12899734..12918819hg19UCSC Ensembl
Innerchr1:12822321..12841406hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819084
hg1919086
hg1819086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv131n54
Supporting Variantsnssv710156
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545510
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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