A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982169



Internal ID19225383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109512297..109512348hg38UCSC Ensembl
Outerchr1:110054919..110054970hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119708
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982169
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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