A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3507377



Internal ID18458972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:100249953..100290757hg38UCSC Ensembl
Innerchr10:102009710..102050514hg19UCSC Ensembl
Innerchr10:101999700..102040504hg18UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3840805
hg1940805
hg1840805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1043825
Supporting Variants
Samples
Known GenesBLOC1S2, CWF19L1, PKD2L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3507377
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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