A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6987



Internal ID15536877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43030260..43062792hg38UCSC Ensembl
Outerchr22:43426266..43458798hg19UCSC Ensembl
Outerchr22:41756210..41788742hg18UCSC Ensembl
Outerchr22:41750764..41783296hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386906
hg196906
hg186906
hg176906
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3645
Supporting Variants
SamplesNA12156
Known GenesTTLL1
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)nssv6987
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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