A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv857



Internal ID15206192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101129969..101165097hg38UCSC Ensembl
Outerchr12:101523747..101558875hg19UCSC Ensembl
Outerchr12:100047878..100083006hg18UCSC Ensembl
Outerchr12:100026215..100061343hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3812284
hg1912284
hg1812284
hg1712284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6530, nssv4046
SamplesNA12156, NA12878
Known GenesSLC5A8
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)nsv857
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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