A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1521



Internal ID5090544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:8014239..8047493hg19UCSC Ensembl
Outerchr1:7936826..7970080hg18UCSC Ensembl
Outerchr1:7948505..7981759hg17UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg196773
hg186773
hg176773
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv2406
SamplesNA18555
Known GenesPARK7
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)nsv1521
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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