A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv704



Internal ID5084173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51610040..51644187hg19UCSC Ensembl
Outerchr12:49896307..49930454hg18UCSC Ensembl
Outerchr12:49896307..49930454hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg195599
hg185599
hg175599
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv4023
SamplesNA12878
Known GenesDAZAP2, POU6F1, SMAGP
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)nsv704
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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