A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027547



Internal ID19116766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144642300..144711529hg38UCSC Ensembl
Innerchr7:144339393..144408622hg19UCSC Ensembl
Innerchr7:143970326..144039555hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3869230
hg1969230
hg1869230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674188
Samples
Known GenesTPK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027547
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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