A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv551



Internal ID15545378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:54876648..54910518hg38UCSC Ensembl
Outerchr6:54741446..54775316hg19UCSC Ensembl
Outerchr6:54849405..54883275hg18UCSC Ensembl
Outerchr6:54849405..54883275hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg387130
hg197130
hg187130
hg177130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5308
Supporting Variants
SamplesNA19240
Known GenesFAM83B
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)nssv551
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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