A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984561



Internal ID18862176
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 StatusS
Merged Variantsnsv1126323
Supporting Variants
SamplesKWS1
Known GenesWSB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984561
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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