A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001662



Internal ID19194034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:27713610..27713689hg38UCSC Ensembl
Outerchr16:27724931..27725010hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148152
Supporting Variants
SamplesKWB1
Known GenesKIAA0556
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001662
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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