A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112120



Internal ID18927873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24811647..24817722hg38UCSC Ensembl
Outerchr6:24811875..24817950hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386076
hg196076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3290n106
Supporting Variantsnssv3958113, nssv3989225
SamplesKWS2, KWS1
Known GenesFAM65B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112120
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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