A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987220



Internal ID18870792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88052794..88054994hg38UCSC Ensembl
Outerchr16:88086400..88088600hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132444
Supporting Variants
SamplesKWS1
Known GenesBANP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987220
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer