A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118784



Internal ID19278192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31684637..31685237hg38UCSC Ensembl
Outerchr18:29264600..29265200hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981096
SamplesKWS1
Known GenesB4GALT6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118784
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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