A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952651



Internal ID16954838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206684156..206686055hg38UCSC Ensembl
Outerchr1:206857501..206859400hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000118
SamplesBILGI_BIOE
Known GenesMAPKAPK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952651
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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