A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004598



Internal ID18747129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6645296..7178603hg38UCSC Ensembl
Innerchr1:6705356..7238663hg19UCSC Ensembl
Innerchr1:6627943..7161250hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38533308
hg19533308
hg18533308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3470065
Samples
Known GenesCAMTA1, DNAJC11, LOC100505887
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004598
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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