A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984566



Internal ID18862404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123388653..123389753hg38UCSC Ensembl
Outerchr12:123873200..123874300hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126327
Supporting Variants
SamplesKWS1
Known GenesSETD8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984566
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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