A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016256



Internal ID18758791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30609596..31123442hg38UCSC Ensembl
Innerchr7:30649212..31163056hg19UCSC Ensembl
Innerchr7:30615737..31129581hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38513847
hg19513845
hg18513845
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6316n100
Supporting Variantsnssv3643351
Samples
Known GenesADCYAP1R1, AQP1, CRHR2, FAM188B, GARS, GHRHR, INMT, INMT-FAM188B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016256
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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