A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952389



Internal ID16954576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81137501..81593774hg38UCSC Ensembl
Outerchr17:79111301..79560800hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38456274
hg19449500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998822
SamplesBILGI_BIOE
Known GenesAATK, AATK-AS1, ACTG1, AZI1, BAHCC1, C17orf70, C17orf89, ENTHD2, FSCN2, LINC00482, LOC100130370, MIR3186, MIR4740, NPLOC4, SLC38A10, TMEM105
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952389
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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