A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833



Internal ID15206168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95665257..95696754hg38UCSC Ensembl
Outerchr12:96059033..96090530hg19UCSC Ensembl
Outerchr12:94583164..94614661hg18UCSC Ensembl
Outerchr12:94561501..94592998hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg387916
hg197916
hg187916
hg177916
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6528
SamplesNA12156
Known GenesNTN4, PGAM1P5
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)nsv833
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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