A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951471



Internal ID17300345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2134162..2139261hg38UCSC Ensembl
Outerchr1:2065601..2070700hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997237
SamplesBILGI_BIOE
Known GenesPRKCZ
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951471
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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