A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440



Internal ID8517232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111120117..111154061hg38UCSC Ensembl
Outerchr6:111441320..111475264hg19UCSC Ensembl
Outerchr6:111548013..111581957hg18UCSC Ensembl
Outerchr6:111548013..111581957hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg387054
hg197054
hg187054
hg177054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv576
SamplesNA19240
Known GenesSLC16A10
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)nsv5440
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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