A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121350



Internal ID18940289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:106535747..106536066hg38UCSC Ensembl
Outerchr6:106983622..106983941hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3358n106
Supporting Variantsnssv3972230, nssv3989231
SamplesKWS2, KWS1
Known GenesAIM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121350
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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