A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544964



Internal ID15985687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1217251..1275912hg38UCSC Ensembl
Innerchr1:1152631..1211292hg19UCSC Ensembl
Innerchr1:1142494..1201155hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3858662
hg1958662
hg1858662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1172577
Samples1782681247_A
Known GenesB3GALT6, FAM132A, SDF4, UBE2J2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544964
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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