A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv696



Internal ID15205235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:47720180..47754753hg38UCSC Ensembl
Outerchr12:48113963..48148536hg19UCSC Ensembl
Outerchr12:46400230..46434803hg18UCSC Ensembl
Outerchr12:46400230..46434803hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg385175
hg195175
hg185175
hg175175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4022
SamplesNA12878
Known GenesENDOU, RAPGEF3
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)nsv696
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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