A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009541



Internal ID18752072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1306835..1518210hg38UCSC Ensembl
Innerchr1:1242215..1453590hg19UCSC Ensembl
Innerchr1:1232078..1443453hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38211376
hg19211376
hg18211376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696754
Samples
Known GenesACAP3, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, CCNL2, CPSF3L, DVL1, GLTPD1, LOC148413, MIR6727, MIR6808, MRPL20, MXRA8, PUSL1, TAS1R3, 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)nsv1009541
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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