A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3567813



Internal ID18519408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77119544..77616482hg38UCSC Ensembl
Innerchr17:75115626..75612564hg19UCSC Ensembl
Innerchr17:72627221..73124159hg18UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg38496939
hg19496939
hg18496939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064183
Supporting Variants
Samples
Known GenesLOC100507351, MIR4316, SEC14L1, SEPT9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3567813
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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