A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999198



Internal ID16945464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2143400..2339999hg38UCSC Ensembl
Outerchr16:2193401..2390000hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38196600
hg19196600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952902
Supporting Variants
SamplesBILGI_BIOE
Known GenesABCA3, BRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, MIR3677, MIR4717, MIR940, MLST8, PGP, RAB26, RNPS1, SNORD60, TRAF7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999198
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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