A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128516



Internal ID18910959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:120494746..120497452hg38UCSC Ensembl
Outerchr9:123257024..123259730hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382707
hg192707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960408
SamplesKWS1
Known GenesCDK5RAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128516
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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