A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123178



Internal ID19277960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:51179062..51179132hg38UCSC Ensembl
Outerchr18:48705432..48705502hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972170
SamplesKWS2
Known GenesMEX3C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123178
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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