A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044911



Internal ID18787442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46554143..46861290hg38UCSC Ensembl
Innerchr10:46691159..46995474hg19UCSC Ensembl
Innerchr10:46111165..46415480hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38307148
hg19304316
hg18304316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv742n100
Supporting Variantsnssv3511422
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, GLUD1P7, GPRIN2, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044911
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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