A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126749



Internal ID18925890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31457323..32594423hg38UCSC Ensembl
Outerchr6:31425100..32562200hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381137101
hg191137101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985018
SamplesKWS1
Known GenesABHD16A, AGER, AGPAT1, AIF1, APOM, ATF6B, ATP6V1G2, ATP6V1G2-DDX39B, BAG6, BTNL2, C2, C4A, C4B, C4B_2, C6orf10, C6orf25, C6orf47, C6orf48, CFB, CLIC1, CSNK2B, CYP21A1P, CYP21A2, DDAH2, DDX39B, DXO, EGFL8, EHMT2, FKBPL, GPANK1, GPSM3, HCG23, HCG26, HCP5, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6, HSPA1A, HSPA1B, HSPA1L, LOC100507547, LOC102060414, LSM2, LST1, LTA, LTB, LY6G5B, LY6G5C, LY6G6C, LY6G6D, LY6G6E, LY6G6F, MCCD1, MICB, MIR1236, MIR4646, MIR6721, MIR6832, MIR6833, MSH5, MSH5-SAPCD1, NCR3, NELFE, NEU1, NFKBIL1, NOTCH4, PBX2, PPT2, PPT2-EGFL8, PRRC2A, PRRT1, RNF5, RNF5P1, SAPCD1, SKIV2L, SLC44A4, SNORA38, SNORD117, SNORD48, SNORD52, SNORD84, STK19, TNF, TNXA, TNXB, VARS, VWA7, ZBTB12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126749
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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