A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv155



Internal ID5072690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:16717959..18322297hg19UCSC Ensembl
Outerchr17:16658684..18263022hg18UCSC Ensembl
Outerchr17:16658684..18263022hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv155
SamplesNA15510
Known GenesALKBH5, ATPAF2, C17orf39, COPS3, DRG2, EVPLL, FLCN, FLII, KRT16P2, LLGL1, LRRC48, MED9, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SHMT1, SMCR5, SMCR7, SMCR8, SMCR9, SREBF1, TNFRSF13B, TOM1L2, TOP3A
MethodBAC_aCGH
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


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