A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763072



Internal ID18969042
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 StatusS
Merged Variantsnsv1073969
Supporting Variants
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)nssv3763072
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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