A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121854



Internal ID18910882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:119989196..119989896hg38UCSC Ensembl
Outerchr12:120427000..120427700hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968509
SamplesKWS2
Known GenesCCDC64
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121854
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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