A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133431



Internal ID19268801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76392844..76394944hg38UCSC Ensembl
Outerchr18:74104800..74106900hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1640n106
Supporting Variantsnssv3967861
SamplesKWS2
Known GenesZNF516
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133431
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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