A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9568n54



Internal ID22777463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8700375..8770073hg38UCSC Ensembl
chr5:8700487..8770185hg19UCSC Ensembl
chr5:8753487..8823185hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3869699
hg1969699
hg1869699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597051, nsv597040, nsv597030, nsv597052, nsv597049, nsv597039, nsv597034, nsv597050, nsv597056, nsv597038
Samples1780854558_A, 1780862071_A, NINDS_202, 1798860306_A, NINDS_96, HGDP00007
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9568n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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