A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953527



Internal ID16955714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177393073..177407672hg38UCSC Ensembl
Outerchr2:178257801..178272400hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3814600
hg1914600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003080
SamplesBILGI_BIOE
Known GenesAGPS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953527
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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