A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952367



Internal ID16954554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74751962..74961105hg38UCSC Ensembl
Outerchr17:72748101..72957200hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38209144
hg19209100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998800
SamplesBILGI_BIOE
Known GenesFADS6, FDXR, GRIN2C, HID1, NAT9, OTOP2, OTOP3, SLC9A3R1, TMEM104, USH1G
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952367
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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