A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518998



Internal ID15099605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:173501862..173532932hg38UCSC Ensembl
Innerchr4:174423013..174454083hg19UCSC Ensembl
Innerchr4:174659588..174690658hg18UCSC Ensembl
Innerchr4:174797743..174828813hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3831071
hg1931071
hg1831071
hg1731071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696465
Samples
Known GenesHAND2, HAND2-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518998
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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