A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044422



Internal ID18786953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:43236073..43364859hg38UCSC Ensembl
Innerchr10:43731521..43860307hg19UCSC Ensembl
Innerchr10:43051527..43180313hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38128787
hg19128787
hg18128787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv728n100
Supporting Variantsnssv3516112
Samples
Known GenesRASGEF1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044422
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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