A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126323



Internal ID18925375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:118060795..118061495hg38UCSC Ensembl
Outerchr12:118498600..118499300hg19UCSC 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 Variantsnssv3984561
SamplesKWS1
Known GenesWSB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126323
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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