A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv917



Internal ID15552938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:125297843..125323412hg38UCSC Ensembl
Outerchr12:125782389..125807958hg19UCSC Ensembl
Outerchr12:124348342..124373911hg18UCSC Ensembl
Outerchr12:124307269..124332838hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385122
hg195122
hg185122
hg175122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2894, nssv4057
SamplesNA12878, NA18555
Known Genes
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)nsv917
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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