A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004778



Internal ID18747309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54635180..54764639hg38UCSC Ensembl
Innerchr1:55100853..55230312hg19UCSC Ensembl
Innerchr1:54873441..55002900hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38129460
hg19129460
hg18129460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3471358
Samples
Known GenesMROH7, MROH7-TTC4, PARS2, TTC4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004778
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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