A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521186



Internal ID15101793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79037010..79049340hg38UCSC Ensembl
Innerchr17:77033092..77045422hg19UCSC Ensembl
Innerchr17:74544687..74557017hg18UCSC Ensembl
Innerchr17:74544687..74557017hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3812331
hg1912331
hg1812331
hg1712331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689972, nssv684101
Samples
Known GenesC1QTNF1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521186
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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