A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011818



Internal ID18754353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1394332..1575421hg38UCSC Ensembl
Innerchr1:1329712..1510801hg19UCSC Ensembl
Innerchr1:1319575..1500664hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38181090
hg19181090
hg18181090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696755
Samples
Known GenesANKRD65, ATAD3A, ATAD3B, ATAD3C, CCNL2, LOC148413, MRPL20, SSU72, TMEM240, TMEM88B, VWA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011818
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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