A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4212



Internal ID5087030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6258566..6292031hg19UCSC Ensembl
Outerchr4:6309467..6342932hg18UCSC Ensembl
Outerchr4:6376638..6410103hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg196286
hg186286
hg176286
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv3231
SamplesNA12878
Known GenesWFS1
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)nsv4212
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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