A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001725



Internal ID16947991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:48343862..48383561hg38UCSC Ensembl
Outerchr2:48571001..48610700hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3839700
hg1939700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953781
Supporting Variants
SamplesBILGI_BIOE
Known GenesFOXN2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001725
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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