A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999883



Internal ID17292835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54401196..54463717hg38UCSC Ensembl
Outerchr19:54912801..54974900hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3862522
hg1962100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953617
Supporting Variants
SamplesBILGI_BIOE
Known GenesLENG8, LENG9, TTYH1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999883
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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