A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703549



Internal ID15093515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125075650..125095474hg38UCSC Ensembl
Innerchr11:124945546..124965370hg19UCSC Ensembl
Innerchr11:124450756..124470580hg18UCSC Ensembl
Innerchr11:124450756..124470580hg17UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3819825
hg1919825
hg1819825
hg1719825
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527157
Supporting Variants
Samples
Known GenesSLC37A2, TMEM218
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703549
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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