A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015994



Internal ID18758529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72532208..72889144hg38UCSC Ensembl
Innerchr7:71997193..72359683hg19UCSC Ensembl
Innerchr7:71635129..71997619hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38356937
hg19362491
hg18362491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6460n100
Supporting Variantsnssv3655717
Samples
Known GenesMIR4650-1, MIR4650-2, POM121, SBDSP1, SPDYE7P, TYW1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015994
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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