A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129652



Internal ID19273140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220112112..220112432hg38UCSC Ensembl
Outerchr1:220285454..220285774hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv268n106
Supporting Variantsnssv3963937
SamplesKWS1
Known GenesIARS2, RNU5F-1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129652
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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