A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998864



Internal ID16945130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:32768138..32773537hg38UCSC Ensembl
Outerchr18:30348101..30353500hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953529
Supporting Variants
SamplesBILGI_BIOE
Known GenesKLHL14
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998864
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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