A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767596



Internal ID18963076
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 StatusS
Merged Variantsnsv1074389
Supporting Variants
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)nssv3767596
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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