A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527443



Internal ID15108050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52390813..52398946hg38UCSC Ensembl
Innerchr6:52255611..52263744hg19UCSC Ensembl
Innerchr6:52363570..52371703hg18UCSC Ensembl
Innerchr6:52363570..52371703hg17UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg388134
hg198134
hg188134
hg178134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703884
Samples
Known GenesPAQR8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527443
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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