A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991259



Internal ID18886101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:17777296..17777366hg38UCSC Ensembl
Outerchr19:17888105..17888175hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138674
Supporting Variants
SamplesKWS2
Known GenesFCHO1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991259
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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