A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544965



Internal ID15985688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1217251..1306704hg38UCSC Ensembl
Innerchr1:1152631..1242084hg19UCSC Ensembl
Innerchr1:1142494..1231947hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3889454
hg1989454
hg1889454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708526
Samples
Known GenesACAP3, B3GALT6, FAM132A, MIR6726, SCNN1D, SDF4, UBE2J2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544965
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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