A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139244



Internal ID18914378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47485808..47485860hg38UCSC Ensembl
Outerchr4:47487825..47487877hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957487, nssv3974428
SamplesKWS1, KWS2
Known GenesATP10D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139244
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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