A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144833



Internal ID19249472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30130690..30130813hg38UCSC Ensembl
Outerchr19:30621597..30621720hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1764n106
Supporting Variantsnssv3981429
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144833
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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