A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv155



Internal ID8350618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:16814645..18418983hg38UCSC Ensembl
Outerchr17:16717959..18322297hg19UCSC Ensembl
Outerchr17:16658684..18263022hg18UCSC Ensembl
Outerchr17:16658684..18263022hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381604339
hg191604339
hg181604339
hg171604339
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv155
SamplesNA15510
Known GenesALKBH5, ATPAF2, COPS3, DRG2, EVPLL, FLCN, FLII, FLJ35934, GID4, KRT16P2, LLGL1, LRRC48, MED9, MIEF2, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SHMT1, SMCR5, SMCR8, SMCR9, SREBF1, TNFRSF13B, TOM1L2, TOP3A
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nsv155
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