A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028971



Internal ID19118190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65949077..65992450hg38UCSC Ensembl
Innerchr7:65414064..65457437hg19UCSC Ensembl
Innerchr7:65051499..65094872hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3843374
hg1943374
hg1843374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655626, nssv3753077
Samples
Known GenesGUSB, VKORC1L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028971
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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