A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968440



Internal ID19245657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:219611758..219613058hg38UCSC Ensembl
Outerchr1:219785100..219786400hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121789
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968440
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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