A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030188



Internal ID18772719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69550464..71358233hg38UCSC Ensembl
Innerchr5:68846291..70654060hg19UCSC Ensembl
Innerchr5:68882047..70689816hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381807770
hg191807770
hg181807770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5695n100
Supporting Variantsnssv3640879
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, OCLN, 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)nsv1030188
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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