A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032840



Internal ID18775374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69822084..71095414hg38UCSC Ensembl
Innerchr5:69117911..70391241hg19UCSC Ensembl
Innerchr5:69153667..70426997hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381273331
hg191273331
hg181273331
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5697n100
Supporting Variantsnssv3641051, nssv3641057, nssv3641053, nssv3641062, nssv3641056, nssv3641054, nssv3641058, nssv3641061, nssv3641052, nssv3641055, nssv3641059, nssv3641060
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032840
Frequency
Sample Size29084
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


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