A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990263



Internal ID18887817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:42987366..42987426hg38UCSC Ensembl
Outerchr1:43453037..43453097hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137753
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990263
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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