A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3641051



Internal ID18592646
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032840
Supporting Variants
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)nssv3641051
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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