A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704280



Internal ID15094246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44899824..45226241hg38UCSC Ensembl
Innerchr17:42977192..43303608hg19UCSC Ensembl
Innerchr17:40332718..40659391hg18UCSC Ensembl
Innerchr17:40332718..40659391hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38326418
hg19326417
hg18326674
hg17326674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527788
Supporting Variants
Samples
Known GenesACBD4, C1QL1, CCDC103, DCAKD, FMNL1, GFAP, HEXIM1, HEXIM2, KIF18B, MIR6783, MIR6784, NMT1, PLCD3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704280
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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