A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583422



Internal ID16024145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:154406489..154475974hg38UCSC Ensembl
Innerchr2:155263001..155332486hg19UCSC Ensembl
Innerchr2:154971247..155040732hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3869486
hg1969486
hg1869486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv922084
Samples
Known GenesGALNT13, LOC100144595
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583422
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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