A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000264



Internal ID16946530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:19377788..19387787hg38UCSC Ensembl
Outerchr17:19281101..19291100hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3810000
hg1910000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953845
Supporting Variants
SamplesBILGI_BIOE
Known GenesB9D1, MAPK7, MFAP4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000264
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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