A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516173



Internal ID15096780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32316369..33104890hg38UCSC Ensembl
Innerchr2:32541438..33329957hg19UCSC Ensembl
Innerchr2:32394942..33183461hg18UCSC Ensembl
Innerchr2:32453089..33241608hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38788522
hg19788520
hg18788520
hg17788520
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702404, nssv666627, nssv667964, nssv696854, nssv689541, nssv697899, nssv703436, nssv678192, nssv687765, nssv693229
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516173
Frequency
Sample Size2026
Observed Gain5
Observed Loss5
Observed Complex0
Frequencyn/a


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