A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2999



Internal ID5087668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155201955..155205086hg19UCSC Ensembl
Outerchr1:153468579..153471710hg18UCSC Ensembl
Outerchr1:152015028..152018159hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg1920871
hg1820871
hg1720871
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv4714
SamplesNA19129
Known GenesGBA
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)nsv2999
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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