A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601945



Internal ID16042668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31810495..31896527hg38UCSC Ensembl
Innerchr6:31778272..31864304hg19UCSC Ensembl
Innerchr6:31886251..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 Variantsdgv10461n54
Supporting Variantsnssv1053525
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)nsv601945
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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