A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126683



Internal ID18910723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:9893176..9893576hg38UCSC Ensembl
Outerchr4:9894800..9895200hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984950
SamplesKWS1
Known GenesSLC2A9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126683
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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