A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953903



Internal ID16956090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45081533..45148633hg38UCSC Ensembl
Outerchr17:43158901..43226000hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3867101
hg1967100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998749
SamplesBILGI_BIOE
Known GenesACBD4, HEXIM1, MIR6784, NMT1, PLCD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953903
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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