A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516805



Internal ID15097412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1462453..1487205hg38UCSC Ensembl
Innerchr17:1365747..1390499hg19UCSC Ensembl
Innerchr17:1312497..1337249hg18UCSC Ensembl
Innerchr17:1312497..1337249hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3824753
hg1924753
hg1824753
hg1724753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688467, nssv671051
Samples
Known GenesMYO1C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516805
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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