A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3002696



Internal ID16948962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3997035..3997464hg38UCSC Ensembl
Outerchr18:3997035..3997464hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954941
Supporting Variants
SamplesBILGI_BIOE
Known GenesDLGAP1, DLGAP1-AS4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3002696
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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