A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3435



Internal ID15191477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44219240..44223496hg38UCSC Ensembl
Outerchr6:44186977..44191233hg19UCSC Ensembl
Outerchr6:44294955..44299211hg18UCSC Ensembl
Outerchr6:44294955..44299211hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386206
hg196206
hg186206
hg176206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5282
Supporting Variants
SamplesNA12878
Known GenesSLC29A1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv3435
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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