A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3747256



Internal ID18698851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69571455..71011568hg38UCSC Ensembl
Innerchr5:68867282..70307395hg19UCSC Ensembl
Innerchr5:68903038..70343151hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381440114
hg191440114
hg181440114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1025283
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, 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)nssv3747256
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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