A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv569



Internal ID15545340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:92788361..92821939hg38UCSC Ensembl
Outerchr6:93498079..93531657hg19UCSC Ensembl
Outerchr6:93554800..93588378hg18UCSC Ensembl
Outerchr6:93554800..93588378hg17UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg387401
hg197401
hg187401
hg177401
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395
Supporting Variants
SamplesNA19240
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)nssv569
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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