A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148152



Internal ID19198197
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 StatusM
Merged Variants
Supporting Variantsnssv4001662
SamplesKWB1
Known GenesKIAA0556
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148152
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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