A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576030



Internal ID16016753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75585518..75604810hg38UCSC Ensembl
Innerchr17:73581599..73600891hg19UCSC Ensembl
Innerchr17:71093194..71112486hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3819293
hg1919293
hg1819293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149808, nssv1149809
SamplesHGDP01081, HGDP00984
Known GenesMYO15B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576030
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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