A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144133



Internal ID18925526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:15248269..15248869hg38UCSC Ensembl
Outerchr6:15248500..15249100hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994856
SamplesKWS1
Known GenesJARID2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144133
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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