A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3655250



Internal ID18606845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93602376..95828660hg38UCSC Ensembl
Innerchr7:93231688..95457972hg19UCSC Ensembl
Innerchr7:93069624..95295908hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg382226285
hg192226285
hg182226285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023193
Supporting Variants
Samples
Known GenesASB4, BET1, CASD1, COL1A2, DYNC1I1, GNG11, GNGT1, MIR4652, PDK4, PEG10, PON1, PON2, PON3, PPP1R9A, SGCE, TFPI2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3655250
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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