A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3970213



Internal ID18893947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:113983653..113983714hg38UCSC Ensembl
Outerchr1:114526275..114526336hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133890
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3970213
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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