A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994860



Internal ID18874496
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 StatusS
Merged Variantsnsv1144137
Supporting Variants
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)nssv3994860
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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