A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516100



Internal ID15096707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36459737..36549567hg38UCSC Ensembl
Innerchr17:34815551..34905408hg19UCSC Ensembl
Innerchr17:31889664..31979521hg18UCSC Ensembl
Innerchr17:31889664..31979521hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3889831
hg1989858
hg1889858
hg1789858
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654641, nssv673306, nssv688794, nssv667523, nssv672621, nssv693163, nssv666207, nssv686837, nssv676214, nssv679403
Samples
Known GenesGGNBP2, MYO19, PIGW, ZNHIT3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516100
Frequency
Sample Size2026
Observed Gain7
Observed Loss3
Observed Complex0
Frequencyn/a


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