A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029443



Internal ID18771974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56835555..57145097hg38UCSC Ensembl
Innerchr8:57748114..58057656hg19UCSC Ensembl
Innerchr8:57910668..58220210hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38309543
hg19309543
hg18309543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3688704
Samples
Known GenesIMPAD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029443
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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