A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014249



Internal ID18756783
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 StatusM
Merged Variants
Supporting Variantsnssv3498892, nssv3704829
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)nsv1014249
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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