A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132444



Internal ID18909826
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 StatusM
Merged Variants
Supporting Variantsnssv3987220
SamplesKWS1
Known GenesBANP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132444
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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