A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137133



Internal ID18915291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104763821..104763882hg38UCSC Ensembl
Outerchr6:105211696..105211757hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975824
SamplesKWS2
Known GenesHACE1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137133
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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