A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966984



Internal ID18889983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124339564..124339763hg38UCSC Ensembl
Outerchr12:124824110..124824309hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130668
Supporting Variants
SamplesKWS2
Known GenesNCOR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966984
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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