A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972632



Internal ID19235892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8082314..8082370hg38UCSC Ensembl
Outerchr19:8147198..8147254hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134751
Supporting Variants
SamplesKWS2
Known GenesFBN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972632
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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