A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581752



Internal ID16369161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47020972..47034998hg38UCSC Ensembl
Innerchr2:47248111..47262137hg19UCSC Ensembl
Innerchr2:47101615..47115641hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3814027
hg1914027
hg1814027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6847n54
Supporting Variantsnssv908104
Samples
Known GenesTTC7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581752
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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