A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145032



Internal ID19257946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68750882..69012282hg38UCSC Ensembl
Outerchr4:69616600..69878000hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38261401
hg19261401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981649
SamplesKWS1
Known GenesUGT2A3, UGT2B10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145032
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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