A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999197



Internal ID16945463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1888800..2135899hg38UCSC Ensembl
Outerchr16:1938801..2185900hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38247100
hg19247100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952901
Supporting Variants
SamplesBILGI_BIOE
Known GenesGFER, HS3ST6, MIR1225, MIR4516, MIR6511B-1, MSRB1, NDUFB10, NOXO1, NPW, NTHL1, PKD1, RNF151, RPL3L, RPS2, SLC9A3R2, SNHG9, SNORA10, SNORA64, SNORA78, SYNGR3, TBL3, TSC2, ZNF598
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999197
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer