A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149347



Internal ID15508792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:633174..875010hg38UCSC Ensembl
Innerchr17:536414..778250hg19UCSC Ensembl
Innerchr17:483164..725000hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38241837
hg19241837
hg18241837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574076
Supporting Variants
Samples1782681079_A
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149347
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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