A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972270



Internal ID19230142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49170381..49170436hg38UCSC Ensembl
Outerchr19:49673638..49673693hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123270
Supporting Variants
SamplesKWS2
Known GenesTRPM4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972270
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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