A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv728728



Internal ID16022684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169263603..169271737hg38UCSC Ensembl
Innerchr1:169232841..169240975hg19UCSC Ensembl
Innerchr1:167499465..167507599hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg388135
hg198135
hg188135
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548175
Supporting Variants
Samples
Known GenesNME7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv728728
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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