A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136043



Internal ID19270459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:40344415..40347891hg38UCSC Ensembl
Outerchr4:40346432..40349908hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg383477
hg193477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989650, nssv3980288
SamplesKWS2, KWS1
Known GenesCHRNA9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136043
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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