A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608485



Internal ID16395894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140175698..140177127hg38UCSC Ensembl
Innerchr7:139875498..139876927hg19UCSC Ensembl
Innerchr7:139521967..139523396hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381430
hg191430
hg181430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11624n54
Supporting Variantsnssv1094827
Samples
Known GenesKDM7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608485
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer