A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545124



Internal ID15985847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3451579..3488732hg38UCSC Ensembl
Innerchr1:3368143..3405296hg19UCSC Ensembl
Innerchr1:3358003..3395156hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3837154
hg1937154
hg1837154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708843
Samples
Known GenesARHGEF16, MEGF6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545124
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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