A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998917



Internal ID16945183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:355801..1104501hg38UCSC Ensembl
Outerchr19:355801..1104500hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38748701
hg19748700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953938
Supporting Variants
SamplesBILGI_BIOE
Known GenesABCA7, ARID3A, AZU1, BSG, C2CD4C, CDC34, CFD, CNN2, ELANE, FGF22, FSTL3, GPX4, GRIN3B, GZMM, HCN2, HMHA1, KISS1R, LPPR3, MADCAM1, MED16, MIR3187, MIR4745, MISP, ODF3L2, PALM, POLR2E, POLRMT, PRSS57, PRTN3, PTBP1, R3HDM4, RNF126, SHC2, THEG, TMEM259, TPGS1, WDR18
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998917
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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