A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604254



Internal ID16044977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99434687..99473946hg38UCSC Ensembl
Innerchr6:99882563..99921822hg19UCSC Ensembl
Innerchr6:99989284..100028543hg18UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3839260
hg1939260
hg1839260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154855
Samples1780862356_A
Known GenesUSP45
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604254
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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