A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7343



Internal ID15205657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:78955245..79019009hg38UCSC Ensembl
Outerchr10:80715002..80778766hg19UCSC Ensembl
Outerchr10:80385008..80448772hg18UCSC Ensembl
Outerchr10:80385008..80448772hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg386046
hg196046
hg186046
hg176046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10767, nssv3886
SamplesNA12878, NA18956
Known GenesZMIZ1-AS1
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)nsv7343
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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