A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3568602



Internal ID18520197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47364641..47441706hg38UCSC Ensembl
Innerchr17:45442007..45519072hg19UCSC Ensembl
Innerchr17:42797006..42874071hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3877066
hg1977066
hg1877066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056191
Supporting Variants
Samples
Known GenesEFCAB13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3568602
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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