A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125496



Internal ID19276873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45400759..45401082hg38UCSC Ensembl
Outerchr19:45904017..45904340hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1788n106
Supporting Variantsnssv3983673
SamplesKWS1
Known GenesPPP1R13L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125496
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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