A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729172



Internal ID18680767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106707226..108333964hg38UCSC Ensembl
Innerchr2:107323682..108950420hg19UCSC Ensembl
Innerchr2:106690114..108316852hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381626739
hg191626739
hg181626739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999500
Supporting Variants
Samples
Known GenesRGPD4, RGPD4-AS1, SLC5A7, ST6GAL2, SULT1C2, SULT1C2P1, SULT1C3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729172
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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