A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547570



Internal ID15988293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115029744..115066582hg38UCSC Ensembl
Innerchr1:115572365..115609203hg19UCSC Ensembl
Innerchr1:115373888..115410726hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3836839
hg1936839
hg1836839
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173121
Samples1780854464_A
Known GenesTSHB, TSPAN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547570
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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