A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131995



Internal ID18930913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:83237371..83237424hg38UCSC Ensembl
Outerchr6:83947090..83947143hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986634
SamplesKWS1
Known GenesME1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131995
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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