A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133010



Internal ID18907987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50090698..50609032hg38UCSC Ensembl
Outerchr19:50593955..51112289hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38518335
hg19518335
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987807
SamplesKWS1
Known GenesASPDH, EMC10, FAM71E1, IZUMO2, JOSD2, KCNC3, LRRC4B, MYBPC2, MYH14, NAPSA, NAPSB, NR1H2, POLD1, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, SNAR-F, SPIB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133010
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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