A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030700



Internal ID18773231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142867398..143010429hg38UCSC Ensembl
Innerchr7:142565153..142707516hg19UCSC Ensembl
Innerchr7:142275275..142417638hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38143032
hg19142364
hg18142364
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3669488
Samples
Known GenesC7orf34, EPHB6, KEL, TRPV5, TRPV6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030700
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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