A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121537



Internal ID19253584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:74773213..74773288hg38UCSC Ensembl
Outerchr18:72485169..72485244hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3965540
SamplesKWS2
Known GenesZNF407
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121537
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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