A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000196



Internal ID18742727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:103475625..106148054hg38UCSC Ensembl
Innerchr4:104396782..107069211hg19UCSC Ensembl
Innerchr4:104616231..107288660hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg382672430
hg192672430
hg182672430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3631231
Samples
Known GenesARHGEF38, ARHGEF38-IT1, CXXC4, GSTCD, INTS12, NPNT, PPA2, TACR3, TBCK, TET2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000196
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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