A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170025



Internal ID21314086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127977878..128147870hg38UCSC Ensembl
Outerchr4:127970650..128151963hg38UCSC Ensembl
Innerchr4:128899033..129069025hg19UCSC Ensembl
Outerchr4:128891805..129073118hg19UCSC Ensembl
Innerchr4:129118483..129288475hg18UCSC Ensembl
Outerchr4:129111255..129292568hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38181314
hg19181314
hg18181314
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14250653, nssv14248144, nssv14247580
SamplesNGO_37, NGO_9, NGO_4
Known GenesC4orf29, LARP1B
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170025
Frequency
Sample Size93
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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