A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702341



Internal ID15092307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121855368..121895328hg38UCSC Ensembl
Innerchr3:121574215..121614175hg19UCSC Ensembl
Innerchr3:123056905..123096865hg18UCSC Ensembl
Innerchr3:123056905..123096865hg17UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3839961
hg1939961
hg1839961
hg1739961
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516233
Supporting Variants
Samples
Known GenesEAF2, SLC15A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702341
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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