A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607499



Internal ID16048222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75138206..75182681hg38UCSC Ensembl
Innerchr7:74554013..74598413hg19UCSC Ensembl
Innerchr7:74191949..74236349hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3844476
hg1944401
hg1844401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1087718
Samples
Known GenesGTF2IRD2, GTF2IRD2B, NCF1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607499
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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