A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967809



Internal ID19232062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2340199..2343199hg38UCSC Ensembl
Outerchr16:2390200..2393200hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131103
Supporting Variants
SamplesKWS2
Known GenesABCA17P, ABCA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967809
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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