A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000012



Internal ID18742543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:26714969..27141528hg38UCSC Ensembl
Innerchr1:27041460..27468019hg19UCSC Ensembl
Innerchr1:26914047..27340606hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38426560
hg19426560
hg18426560
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700633
Samples
Known GenesARID1A, C1orf172, FAM46B, GPATCH3, GPN2, NR0B2, NUDC, PIGV, SFN, SLC9A1, TRNP1, ZDHHC18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000012
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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