A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517403



Internal ID15098010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2600507..2700381hg38UCSC Ensembl
Innerchr7:2640141..2740015hg19UCSC Ensembl
Innerchr7:2606667..2706541hg18UCSC Ensembl
Innerchr7:2413382..2513256hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3899875
hg1999875
hg1899875
hg1799875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401n21
Supporting Variantsnssv651919, nssv692477, nssv696153, nssv695211
Samples
Known GenesAMZ1, IQCE, TTYH3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517403
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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