A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017637



Internal ID19106854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72754112..72912905hg38UCSC Ensembl
Innerchr7:72219095..72383442hg19UCSC Ensembl
Innerchr7:71857031..72021378hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38158794
hg19164348
hg18164348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3656483
Samples
Known GenesPOM121, 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)nsv1017637
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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