A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579967



Internal ID16367376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51620296..51652196hg38UCSC Ensembl
Innerchr19:52123549..52155449hg19UCSC Ensembl
Innerchr19:56815361..56847261hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3831901
hg1931901
hg1831901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150658
SamplesNINDS_88
Known GenesSIGLEC14, SIGLEC5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579967
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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