A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952392



Internal ID16954579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81885825..82065724hg38UCSC Ensembl
Outerchr17:79843701..80023600hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38179900
hg19179900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998825
SamplesBILGI_BIOE
Known GenesALYREF, ANAPC11, ASPSCR1, DCXR, DUS1L, GPS1, LRRC45, MAFG, MAFG-AS1, MYADML2, NOTUM, NPB, PCYT2, PYCR1, RAC3, RFNG, SIRT7, STRA13
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952392
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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