A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5268



Internal ID15550060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:38225599..38233487hg38UCSC Ensembl
Outerchr6:38193375..38201263hg19UCSC Ensembl
Outerchr6:38301353..38309241hg18UCSC Ensembl
Outerchr6:38301353..38309241hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg386676
hg196676
hg186676
hg176676
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3431
SamplesNA12878
Known GenesBTBD9
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)nsv5268
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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