A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525127



Internal ID15452420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211974321..212052033hg38UCSC Ensembl
Innerchr2:212839046..212916758hg19UCSC Ensembl
Innerchr2:212547291..212625003hg18UCSC Ensembl
Innerchr2:212664552..212742264hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3877713
hg1977713
hg1877713
hg1777713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701195
Samples
Known GenesERBB4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525127
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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