A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030001



Internal ID19119220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:147852328..147995286hg38UCSC Ensembl
Innerchr4:148773479..148916437hg19UCSC Ensembl
Innerchr4:148992929..149135887hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38142959
hg19142959
hg18142959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5435n100
Supporting Variantsnssv3636068
Samples
Known GenesARHGAP10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030001
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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