A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2736



Internal ID5086747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:56110569..56144147hg19UCSC Ensembl
Outerchr2:55964073..55997651hg18UCSC Ensembl
Outerchr2:56022220..56055798hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg197397
hg187397
hg177397
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1496
SamplesNA19240
Known GenesEFEMP1
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)nsv2736
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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