A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048338



Internal ID18790869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46446149..46878295hg38UCSC Ensembl
Innerchr10:46674168..47103613hg19UCSC Ensembl
Innerchr10:46094174..46523619hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38432147
hg19429446
hg18429446
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv740n100
Supporting Variantsnssv3509393, nssv3512459, nssv3521056
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, FRMPD2P1, GLUD1P7, GPRIN2, LINC00842, LOC100996758, NPY4R, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048338
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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