A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6768



Internal ID5090196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:139432316..139464768hg19UCSC Ensembl
Outerchr9:138552137..138584589hg18UCSC Ensembl
Outerchr9:136708153..136740605hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg196980
hg186980
hg176980
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv6302
SamplesNA12156
Known GenesMIR4674, NOTCH1
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv6768
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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