A curated catalogue of human genomic structural variation

Variant Details

Variant: nssv24486

Internal ID

15481031

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:47903872..50140175	hg38	UCSC Ensembl
Outer	chr19:47902948..50142001	hg38	UCSC Ensembl
Inner	chr19:48407129..50643432	hg19	UCSC Ensembl
Outer	chr19:48406205..50645258	hg19	UCSC Ensembl
Inner	chr19:53098941..55335244	hg18	UCSC Ensembl
Outer	chr19:53098017..55337070	hg18	UCSC Ensembl
Inner	chr19:53098941..55335244	hg17	UCSC Ensembl
Outer	chr19:53098017..55337070	hg17	UCSC Ensembl

Cytoband

19q13.32

Allele length

Assembly	Allele length
hg38	2239054
hg19	2239054
hg18	2239054
hg17	2239054

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

S

Merged Variants

Supporting Variants

Samples

NA07048

Known Genes

ADM5, AKT1S1, ALDH16A1, AP2A1, ATF5, BAX, BCAT2, BCL2L12, BSPH1, C19orf68, C19orf73, CA11, CABP5, CARD8, CCDC114, CCDC155, CD37, CGB, CGB1, CGB2, CGB5, CGB7, CGB8, CPT1C, CYTH2, DBP, DHDH, DKKL1, ELSPBP1, EMP3, FAM83E, FCGRT, FGF21, FLJ26850, FLT3LG, FTL, FUT1, FUT2, FUZ, GRIN2D, GRWD1, GYS1, HRC, HSD17B14, IL4I1, IRF3, IZUMO1, KCNA7, KCNJ14, KDELR1, LHB, LIG1, LIN7B, LMTK3, LOC100505812, LOC100507003, LOC101059948, MAMSTR, MED25, MIR150, MIR4324, MIR4749, MIR4750, MIR4751, MIR5088, MIR6798, MIR6799, MIR6800, NOSIP, NTF4, NTN5, NUCB1, NUP62, PIH1D1, PLA2G4C, PLEKHA4, PNKP, PPFIA3, PPP1R15A, PRMT1, PRR12, PRRG2, PTH2, PTOV1, PTOV1-AS1, RASIP1, RCN3, RPL13A, RPL13AP5, RPL18, RPS11, RRAS, RUVBL2, SCAF1, SEC1P, SIGLEC11, SIGLEC16, SLC17A7, SLC6A16, SNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-D, SNAR-G1, SNAR-G2, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNRNP70, SPACA4, SPHK2, SULT2B1, SYNGR4, TBC1D17, TEAD2, TMEM143, TRPM4, TSKS, TULP2, VRK3, ZNF114, ZNF473

Method

Oligo aCGH

Analysis

Statistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2

Platform

Agilent-015686 Custom Human 244K CGH Microarray

Comments

Reference

Perry_et_al_2008

Pubmed ID

Accession Number(s)

Frequency

Sample Size	31
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a