A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3704829



Internal ID18656424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178921650..178955113hg38UCSC Ensembl
Innerchr1:178890785..178924248hg19UCSC Ensembl
Innerchr1:177157408..177190871hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3833464
hg1933464
hg1833464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014249
Supporting Variants
Samples
Known GenesRALGPS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3704829
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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