A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3631002



Internal ID18582597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99031321..99227533hg38UCSC Ensembl
Innerchr4:99952472..100148690hg19UCSC Ensembl
Innerchr4:100171495..100367713hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38196213
hg19196219
hg18196219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002927
Supporting Variants
Samples
Known GenesADH4, ADH5, ADH6, LOC100507053, METAP1, PCNAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3631002
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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