A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516137



Internal ID15096744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93938682..94038989hg38UCSC Ensembl
Innerchr1:94404238..94504545hg19UCSC Ensembl
Innerchr1:94176826..94277133hg18UCSC Ensembl
Innerchr1:94116259..94216566hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38100308
hg19100308
hg18100308
hg17100308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667306, nssv701005, nssv666445
Samples
Known GenesABCA4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516137
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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