A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977289



Internal ID19235659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42224148..42227348hg38UCSC Ensembl
Outerchr19:42728300..42731500hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383201
hg193201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139703
Supporting Variants
SamplesKWS2
Known GenesZNF526
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977289
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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