A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1109



Internal ID15197976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99065597..99100208hg38UCSC Ensembl
Outerchr12:99459375..99493986hg19UCSC Ensembl
Outerchr12:97983506..98018117hg18UCSC Ensembl
Outerchr12:97961843..97996454hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386372
hg196372
hg186372
hg176372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv847
Supporting Variants
SamplesNA19240
Known GenesANKS1B
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)nssv1109
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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