A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3963937



Internal ID19223662
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 StatusS
Merged Variantsnsv1129652
Supporting Variants
SamplesKWS1
Known GenesIARS2, RNU5F-1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3963937
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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