A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998572



Internal ID18811422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:149131476..149412700hg38UCSC Ensembl
Innerchr3:148849263..149130487hg19UCSC Ensembl
Innerchr3:150331953..150613177hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38281225
hg19281225
hg18281225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3741495
Samples
Known GenesCP, HPS3, TM4SF1, TM4SF18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998572
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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