A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583421



Internal ID16024144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:154401008..154524026hg38UCSC Ensembl
Innerchr2:155257520..155380538hg19UCSC Ensembl
Innerchr2:154965766..155088784hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38123019
hg19123019
hg18123019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv922083
Samples
Known GenesGALNT13, LOC100144595
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583421
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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