A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955256



Internal ID17304129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12853948..12889470hg38UCSC Ensembl
Outerchr1:12913801..12949300hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3835523
hg1935500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001845
SamplesBILGI_BIOE
Known GenesPRAMEF2, PRAMEF4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955256
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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