A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022713



Internal ID18765247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16230707..17452994hg38UCSC Ensembl
Innerchr7:16270332..17492618hg19UCSC Ensembl
Innerchr7:16236857..17459143hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg381222288
hg191222287
hg181222287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6289n100
Supporting Variantsnssv3643196, nssv3643197
Samples
Known GenesAGR2, AGR3, AHR, ANKMY2, BZW2, ISPD, ISPD-AS1, LRRC72, SOSTDC1, TSPAN13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022713
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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