A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998958



Internal ID16945224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14620089..14623388hg38UCSC Ensembl
Outerchr19:14730901..14734200hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953981
Supporting Variants
SamplesBILGI_BIOE
Known GenesEMR3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998958
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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