A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143921



Internal ID18923845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47479843..47480343hg38UCSC Ensembl
Outerchr19:47983100..47983600hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994627
SamplesKWS1
Known GenesKPTN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143921
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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