A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122073



Internal ID18928432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:182793312..182793812hg38UCSC Ensembl
Outerchr3:182511100..182511600hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2649n106
Supporting Variantsnssv3969509
SamplesKWS2
Known GenesATP11B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122073
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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