A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv738



Internal ID15552383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:62334989..62370313hg38UCSC Ensembl
Outerchr12:62728770..62764094hg19UCSC Ensembl
Outerchr12:61015037..61050361hg18UCSC Ensembl
Outerchr12:61015037..61050361hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg384417
hg194417
hg184417
hg174417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028
SamplesNA12878
Known GenesUSP15
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)nsv738
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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