A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144137



Internal ID18931450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29720323..31338123hg38UCSC Ensembl
Outerchr6:29688100..31305900hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381617801
hg191617801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994860
SamplesKWS1
Known GenesABCF1, ATAT1, C6orf136, C6orf15, CCHCR1, CDSN, DDR1, DHX16, DPCR1, FLOT1, GNL1, GTF2H4, HCG17, HCG18, HCG22, HCG27, HCG4, HCG4B, HCG8, HCG9, HLA-A, HLA-C, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HLA-H, HLA-J, HLA-L, IER3, IFITM4P, LOC554223, MDC1, MIR4640, MIR6891, MIR877, MRPS18B, MUC21, MUC22, NRM, POU5F1, PPP1R10, PPP1R11, PPP1R18, PRR3, PSORS1C1, PSORS1C2, PSORS1C3, RNF39, RPP21, SFTA2, TCF19, TRIM10, TRIM15, TRIM26, TRIM31, TRIM39, TRIM39-RPP21, TRIM40, TUBB, VARS2, ZNRD1, ZNRD1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144137
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer