A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130592



Internal ID19251167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:115475989..115476318hg38UCSC Ensembl
Outerchr8:116488216..116488545hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3886n106
Supporting Variantsnssv3991878, nssv3989296
SamplesKWS2, KWS1
Known GenesTRPS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130592
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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