A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017652



Internal ID18760186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:34875294..35092844hg38UCSC Ensembl
Innerchr7:34914906..35132456hg19UCSC Ensembl
Innerchr7:34881431..35098981hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38217551
hg19217551
hg18217551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6320n100
Supporting Variantsnssv3643404
Samples
Known GenesDPY19L1, DPY19L2P1, NPSR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017652
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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