A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3931



Internal ID15191972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18350679..18384284hg38UCSC Ensembl
Outerchr11:18372226..18405831hg19UCSC Ensembl
Outerchr11:18328802..18362407hg18UCSC Ensembl
Outerchr11:18328802..18362407hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg384686
hg194686
hg184686
hg174686
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7695
Supporting Variants
SamplesNA12878
Known GenesGTF2H1
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)nssv3931
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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