A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134553



Internal ID18938246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57628075..57628138hg38UCSC Ensembl
Outerchr16:57661987..57662050hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954473, nssv3969882
SamplesKWS2, KWS1
Known GenesGPR56
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134553
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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