A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2746



Internal ID15541826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167975363..167999848hg38UCSC Ensembl
Outerchr6:168376043..168400528hg19UCSC Ensembl
Outerchr6:168118892..168143377hg18UCSC Ensembl
Outerchr6:168194599..168219084hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg386813
hg196813
hg186813
hg176813
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5593
Supporting Variants
SamplesNA18555
Known GenesHGC6.3, KIF25-AS1
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)nssv2746
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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