A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606806



Internal ID16047529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44427130..44541392hg38UCSC Ensembl
Innerchr7:44466729..44580991hg19UCSC Ensembl
Innerchr7:44433254..44547516hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38114263
hg19114263
hg18114263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083555
Samples
Known GenesNPC1L1, NUDCD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606806
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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