A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1074346



Internal ID15927532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:147218029..147409188hg38UCSC Ensembl
Innerchr6:147539165..147730324hg19UCSC Ensembl
Innerchr6:147580858..147772017hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38191160
hg19191160
hg18191160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv604840
Supporting Variants
Samples
Known GenesSTXBP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1074346
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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