A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv579



Internal ID15545319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:127589411..127624447hg38UCSC Ensembl
Outerchr6:127910556..127945592hg19UCSC Ensembl
Outerchr6:127952249..127987285hg18UCSC Ensembl
Outerchr6:127952249..127987285hg17UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg385956
hg195956
hg185956
hg175956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469
Supporting Variants
SamplesNA19240
Known GenesC6orf58
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)nssv579
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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