A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009548



Internal ID18752079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6342976..6517352hg38UCSC Ensembl
Innerchr1:6403036..6577412hg19UCSC Ensembl
Innerchr1:6325623..6499999hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38174377
hg19174377
hg18174377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696764
Samples
Known GenesACOT7, ESPN, HES2, MIR4252, PLEKHG5, TNFRSF25
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009548
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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