A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078892



Internal ID18977292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168055318..168056513hg38UCSC Ensembl
chr1:168024556..168025751hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381196
hg191196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762538
SamplesKWP1
Known GenesDCAF6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078892
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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