A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998954



Internal ID16945220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12666887..13095486hg38UCSC Ensembl
Outerchr19:12777701..13206300hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38428600
hg19428600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953977
Supporting Variants
SamplesBILGI_BIOE
Known GenesASNA1, BEST2, C19orf43, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, HOOK2, JUNB, KLF1, MAST1, MIR6515, MIR6794, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, SNORD41, SYCE2, TNPO2, WDR83, WDR83OS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998954
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