A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979584



Internal ID18885643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:44998676..45025772hg38UCSC Ensembl
Outerchr12:45392459..45419555hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3827097
hg1927097
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142807
Supporting Variants
SamplesKWS2
Known GenesDBX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979584
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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