A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114372



Internal ID19250137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:40212134..40212188hg38UCSC Ensembl
Outerchr3:40253625..40253679hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2511n106
Supporting Variantsnssv3973886
SamplesKWS2
Known GenesEIF1B-AS1, MYRIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114372
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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