A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077179



Internal ID18976233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120494678..120497454hg38UCSC Ensembl
chr9:123256956..123259732hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382777
hg192777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767054
SamplesKWP1
Known GenesCDK5RAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077179
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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