A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950201



Internal ID16952388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84987418..84996217hg38UCSC Ensembl
Outerchr1:85453101..85461900hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997168
SamplesBILGI_BIOE
Known GenesMCOLN2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950201
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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