A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001717



Internal ID16947983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:44169262..44187261hg38UCSC Ensembl
Outerchr2:44396401..44414400hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3818000
hg1918000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953775
Supporting Variants
SamplesBILGI_BIOE
Known GenesPPM1B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001717
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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