A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975586



Internal ID19225778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223031350..223031437hg38UCSC Ensembl
Outerchr1:223204692..223204779hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124278
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975586
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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