A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126206



Internal ID18904138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120939107..120948803hg38UCSC Ensembl
Outerchr1:144485400..144495100hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg389697
hg199701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984437
SamplesKWS1
Known GenesLOC100288142, LOC728875
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126206
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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