A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451



Internal ID15550262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117833506..117865780hg38UCSC Ensembl
Outerchr6:118154669..118186943hg19UCSC Ensembl
Outerchr6:118261362..118293636hg18UCSC Ensembl
Outerchr6:118261362..118293636hg17UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg387165
hg197165
hg187165
hg177165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6085
SamplesNA12156
Known Genes
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)nsv5451
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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