A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984568



Internal ID18875311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124993454..124994054hg38UCSC Ensembl
Outerchr12:125478000..125478600hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126329
Supporting Variants
SamplesKWS1
Known GenesBRI3BP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984568
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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