A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135714



Internal ID18932956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91140628..91140952hg38UCSC Ensembl
Outerchr8:92152856..92153180hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3860n106
Supporting Variantsnssv3958786, nssv3965403
SamplesKWS2, KWS1
Known GenesLRRC69
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135714
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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