A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv956716



Internal ID16958903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:56692851..56692905hg38UCSC Ensembl
Outerchr1:57158524..57158578hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000536
SamplesBILGI_BIOE
Known GenesPRKAA2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv956716
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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