A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6316n100



Internal ID22792403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30609596..31145482hg38UCSC Ensembl
chr7:30649212..31185096hg19UCSC Ensembl
chr7:30615737..31151621hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38535887
hg19535885
hg18535885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016256, nsv1023120, nsv1017168
Samples
Known GenesADCYAP1R1, AQP1, CRHR2, FAM188B, GARS, GHRHR, INMT, INMT-FAM188B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6316n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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