A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073969



Internal ID18978096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31456422..33480523hg38UCSC Ensembl
chr6:31424199..33448300hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382024102
hg192024102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763072
SamplesKWP1
Known GenesABHD16A, AGER, AGPAT1, AIF1, APOM, ATF6B, ATP6V1G2, ATP6V1G2-DDX39B, B3GALT4, BAG6, BRD2, BTNL2, C2, C4A, C4B, C4B_2, C6orf10, C6orf25, C6orf47, C6orf48, CFB, CLIC1, COL11A2, CSNK2B, CUTA, CYP21A1P, CYP21A2, DAXX, DDAH2, DDX39B, DXO, EGFL8, EHMT2, FKBPL, GPANK1, GPSM3, HCG23, HCG25, HCG26, HCP5, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DPB2, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6, HSD17B8, HSPA1A, HSPA1B, HSPA1L, KIFC1, LOC100294145, LOC100507547, LOC102060414, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6E, LY6G6F, MCCD1, MICB, MIR1236, MIR219-1, MIR4646, MIR5004, MIR6721, MIR6832, MIR6833, MIR6834, MIR6873, MSH5, MSH5-SAPCD1, NCR3, NELFE, NEU1, NFKBIL1, NOTCH4, PBX2, PFDN6, PHF1, PPT2, PPT2-EGFL8, PRRC2A, PRRT1, PSMB8, PSMB9, RGL2, RING1, RNF5, RNF5P1, RPS18, RXRB, SAPCD1, SKIV2L, SLC39A7, SLC44A4, SNORA38, SNORD117, SNORD48, SNORD52, SNORD84, STK19, SYNGAP1, TAP1, TAP2, TAPBP, TAPSAR1, TNF, TNXA, TNXB, VARS, VPS52, VWA7, WDR46, ZBTB12, ZBTB22, ZBTB9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073969
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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