A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138420



Internal ID18937598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:25710453..25710508hg38UCSC Ensembl
Outerchr16:25721774..25721829hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954441, nssv3969839
SamplesKWS1, KWS2
Known GenesHS3ST4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138420
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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