A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074389



Internal ID18978525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29116522..31446623hg38UCSC Ensembl
chr6:29084299..31414400hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg382330102
hg192330102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767596
SamplesKWP1
Known GenesABCF1, ATAT1, C6orf136, C6orf15, CCHCR1, CDSN, DDR1, DHX16, DPCR1, FLOT1, GABBR1, GNL1, GTF2H4, HCG17, HCG18, HCG22, HCG27, HCG4, HCG4B, HCG8, HCG9, HLA-A, HLA-B, HLA-C, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HLA-H, HLA-J, HLA-L, IER3, IFITM4P, LINC01015, LOC554223, MAS1L, MDC1, MICA, MIR4640, MIR6891, MIR877, MOG, MRPS18B, MUC21, MUC22, NRM, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2H1, OR2H2, OR2J2, OR5V1, POU5F1, PPP1R10, PPP1R11, PPP1R18, PRR3, PSORS1C1, PSORS1C2, PSORS1C3, RNF39, RPP21, SFTA2, SNORD32B, TCF19, TRIM10, TRIM15, TRIM26, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TUBB, UBD, VARS2, ZFP57, ZNRD1, ZNRD1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074389
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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