A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997993



Internal ID18846176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50090571..50609007hg38UCSC Ensembl
Outerchr19:50593828..51112264hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38518437
hg19518437
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152956
Supporting Variants
SamplesKWB1
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
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997993
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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