A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2886



Internal ID15194986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53455169..53489159hg38UCSC Ensembl
Outerchr12:53848953..53882943hg19UCSC Ensembl
Outerchr12:52135220..52169210hg18UCSC Ensembl
Outerchr12:52135220..52169210hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386038
hg196038
hg186038
hg176038
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv714
Supporting Variants
SamplesNA18555
Known GenesMAP3K12, PCBP2
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)nssv2886
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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