A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952357



Internal ID16954544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63969241..64007440hg38UCSC Ensembl
Outerchr17:62046601..62084800hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3838200
hg1938200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998790
SamplesBILGI_BIOE
Known GenesC17orf72, ICAM2, SCN4A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952357
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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