A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605869



Internal ID16046592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2633338..2712853hg38UCSC Ensembl
Innerchr7:2672972..2752487hg19UCSC Ensembl
Innerchr7:2639498..2719013hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3879516
hg1979516
hg1879516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11144n54
Supporting Variantsnssv1155115
SamplesHGDP00490
Known GenesAMZ1, TTYH3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605869
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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