A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522190



Internal ID15449483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140366611..140430863hg38UCSC Ensembl
Innerchr7:140066411..140130663hg19UCSC Ensembl
Innerchr7:139712880..139777132hg18UCSC Ensembl
Innerchr7:139519595..139583847hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3864253
hg1964253
hg1864253
hg1764253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694965
Samples
Known GenesRAB19, SLC37A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522190
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer