A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549071



Internal ID15989794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206894495..206963993hg38UCSC Ensembl
Innerchr1:207067840..207137338hg19UCSC Ensembl
Innerchr1:205134463..205203961hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3869499
hg1969499
hg1869499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174040
SamplesNINDS_21
Known GenesFAIM3, FCAMR, IL24, PIGR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549071
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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