A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984087



Internal ID18881966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:69920974..69921024hg38UCSC Ensembl
Outerchr6:70630866..70630916hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125880
Supporting Variants
SamplesKWS2
Known GenesCOL19A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984087
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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