A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051997



Internal ID18794528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46572046..46962260hg38UCSC Ensembl
Innerchr10:46590219..46977571hg19UCSC Ensembl
Innerchr10:46010225..46397577hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38390215
hg19387353
hg18387353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv737n100
Supporting Variantsnssv3521951
Samples
Known GenesBMS1P1, BMS1P5, FAM35BP, FRMPD2P1, GLUD1P7, PTPN20A, PTPN20B, SYT15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051997
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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