A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600787



Internal ID16041510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:666450..667484hg38UCSC Ensembl
Innerchr6:666450..667484hg19UCSC Ensembl
Innerchr6:611450..612484hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381035
hg191035
hg181035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10267n54
Supporting Variantsnssv1047615, nssv1047611, nssv1047607, nssv1047608, nssv1047609, nssv1047602, nssv1047603, nssv1047597, nssv1047606, nssv1047614, nssv1047604, nssv1047605, nssv1047598, nssv1047612, nssv1047596, nssv1047610, nssv1047613, nssv1047601, nssv1047600, nssv1047599
Samples
Known GenesEXOC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600787
Frequency
Sample Size17421
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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