A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv956483



Internal ID16958670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88736197..88736571hg38UCSC Ensembl
Outerchr5:88032014..88032388hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002119
SamplesBILGI_BIOE
Known GenesMEF2C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv956483
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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