A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606033



Internal ID16393442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7000545..7329068hg38UCSC Ensembl
Innerchr7:7040176..7368699hg19UCSC Ensembl
Innerchr7:7006701..7335224hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38328524
hg19328524
hg18328524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155148
Samples1780862452_A
Known GenesC1GALT1, LOC100131257, LOC101927354
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606033
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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