A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113993



Internal ID18932842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:22596390..22596452hg38UCSC Ensembl
Outerchr19:22779192..22779254hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970075
SamplesKWS2
Known GenesLOC440518
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113993
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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