A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv765



Internal ID15552680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70934855..70960075hg38UCSC Ensembl
Outerchr12:71328635..71353855hg19UCSC Ensembl
Outerchr12:69614902..69640122hg18UCSC Ensembl
Outerchr12:69614902..69640122hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3813360
hg1913360
hg1813360
hg1713360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1095, nssv4032, nssv9840, nssv5435
SamplesNA18507, NA12878, NA19240, NA19129
Known Genes
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)nsv765
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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