A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583041



Internal ID16023764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128285065..128360641hg38UCSC Ensembl
Innerchr2:129042639..129118215hg19UCSC Ensembl
Innerchr2:128759109..128834685hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3875577
hg1975577
hg1875577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150501
Samples1780862444_A
Known GenesHS6ST1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583041
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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