A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3643353



Internal ID18594948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30623597..31127062hg38UCSC Ensembl
Innerchr7:30663213..31166676hg19UCSC Ensembl
Innerchr7:30629738..31133201hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38503466
hg19503464
hg18503464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017168
Supporting Variants
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)nssv3643353
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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