A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607299



Internal ID16048022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:62953169..64054437hg38UCSC Ensembl
Innerchr7:62413547..63514815hg19UCSC Ensembl
Innerchr7:62050982..63152250hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg381101269
hg191101269
hg181101269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155333
SamplesHGDP00551
Known GenesLINC01005, LOC100287704, LOC100287834, MIR4283-1, MIR4283-2, ZNF727, ZNF733P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607299
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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