A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149688



Internal ID15534572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:7010333..7689462hg38UCSC Ensembl
Innerchr17:6913652..7592780hg19UCSC Ensembl
Innerchr17:6854376..7533505hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38679130
hg19679129
hg18679130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574322
Supporting Variants
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
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149688
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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