A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147999



Internal ID18849936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:94386257..97001907hg38UCSC Ensembl
Outerchr9:97148539..99764189hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg382615651
hg192615651
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001511
SamplesKWB1
Known GenesAAED1, C9orf3, CDC14B, ERCC6L2, FANCC, FBP1, FBP2, HABP4, HIATL1, HIATL2, HSD17B3, LINC00092, LINC00476, LOC100132781, LOC100507346, LOC158434, LOC158435, LOC441454, LOC441455, MIR2278, MIR23B, MIR24-1, MIR27B, MIR3074, MIR6081, NUTM2G, PTCH1, SLC35D2, ZNF367, ZNF510, ZNF782
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147999
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