A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457659



Internal ID8484706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7010333..7689462hg38UCSC Ensembl
Innerchr17:6913652..7592780hg19UCSC Ensembl
Innerchr17:6854376..7533505hg18UCSC Ensembl
Innerchr17:6854376..7533505hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38679130
hg19679129
hg18679130
hg17679130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534795
SamplesNINDS_91
Known GenesACADVL, ACAP1, ALOX12, ASGR1, ASGR2, ATP1B2, BCL6B, C17orf49, C17orf74, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, KCTD11, LOC100506713, MIR195, MIR324, MIR497, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PLSCR3, POLR2A, RNASEK, RNASEK-C17orf49, SAT2, SENP3, SENP3-EIF4A1, SHBG, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SNORA48, SNORA67, SNORD10, SOX15, SPEM1, TMEM102, TMEM256, TMEM256-PLSCR3, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, WRAP53, YBX2, ZBTB4
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv457659
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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