A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523246



Internal ID15450539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:87447271..87448680hg38UCSC Ensembl
Innerchr7:87076587..87077996hg19UCSC Ensembl
Innerchr7:86914523..86915932hg18UCSC Ensembl
Innerchr7:86721238..86722647hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381410
hg191410
hg181410
hg171410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698975
Samples
Known GenesABCB4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523246
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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