A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv904



Internal ID15552925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120193186..120195037hg38UCSC Ensembl
Outerchr12:120630989..120632840hg19UCSC Ensembl
Outerchr12:119115372..119117223hg18UCSC Ensembl
Outerchr12:119093709..119095560hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg386718
hg196718
hg186718
hg176718
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6537
SamplesNA12156
Known GenesGCN1L1
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)nsv904
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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