A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10461n54



Internal ID20143885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31810495..31896527hg38UCSC Ensembl
chr6:31778272..31864304hg19UCSC Ensembl
chr6:31886251..31972283hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3886033
hg1986033
hg1886033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv601945, nsv601959
Samples
Known GenesC6orf48, EHMT2, HSPA1A, HSPA1B, HSPA1L, NEU1, SLC44A4, SNORD48, SNORD52
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10461n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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