A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122961



Internal ID18933692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88736195..88736525hg38UCSC Ensembl
Outerchr5:88032012..88032342hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3122n106
Supporting Variantsnssv3971559
SamplesKWS1
Known GenesMEF2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122961
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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