A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122126



Internal ID18921830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28628023..31244023hg38UCSC Ensembl
Outerchr6:28595800..31211800hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg382616001
hg192616001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969567
SamplesKWS2
Known GenesABCF1, ATAT1, C6orf100, C6orf136, C6orf15, CCHCR1, CDSN, DDR1, DHX16, DPCR1, FLOT1, GABBR1, GNL1, GTF2H4, HCG14, HCG17, HCG18, HCG22, HCG27, HCG4, HCG4B, HCG8, HCG9, HLA-A, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HLA-H, HLA-J, HLA-L, IER3, IFITM4P, LINC01015, LOC100129636, LOC401242, LOC554223, MAS1L, MDC1, MIR4640, MIR6891, MIR877, MOG, MRPS18B, MUC21, MUC22, NRM, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2B3, OR2H1, OR2H2, OR2J2, OR2J3, OR2W1, OR5V1, POU5F1, PPP1R10, PPP1R11, PPP1R18, PRR3, PSORS1C1, PSORS1C2, PSORS1C3, RNF39, RPP21, SFTA2, SNORD32B, TCF19, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TUBB, UBD, VARS2, ZFP57, ZNF311, ZNRD1, ZNRD1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122126
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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