A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144847



Internal ID18940110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:720100..720600hg38UCSC Ensembl
Outerchr19:720100..720600hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1677n106
Supporting Variantsnssv3981445
SamplesKWS1
Known GenesPALM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144847
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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