A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116352



Internal ID19261890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:58127314..58127375hg38UCSC Ensembl
Outerchr19:58638681..58638742hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955482
SamplesKWS1
Known GenesZNF329
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116352
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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