A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126488



Internal ID19276299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76492544..76495344hg38UCSC Ensembl
Outerchr18:74204500..74207300hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1642n106
Supporting Variantsnssv3984740
SamplesKWS1
Known GenesZNF516
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126488
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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