A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991232



Internal ID19240980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1590103..1590180hg38UCSC Ensembl
Outerchr19:1590102..1590179hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138647
Supporting Variants
SamplesKWS2
Known GenesMBD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991232
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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