A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069605



Internal ID18972639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72241255..72241756hg38UCSC Ensembl
chr11:71952299..71952800hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762383
SamplesKWP1
Known GenesPHOX2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069605
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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