A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122441



Internal ID18916814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:200058614..200058667hg38UCSC Ensembl
Outerchr1:200027742..200027795hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970647
SamplesKWS2
Known GenesNR5A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122441
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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