A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1444



Internal ID5087530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75623674..75656728hg19UCSC Ensembl
Outerchr1:75396262..75429316hg18UCSC Ensembl
Outerchr1:75335695..75368749hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg196386
hg186386
hg176386
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv7244
SamplesNA12156
Known GenesLHX8
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)nsv1444
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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