A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3704830



Internal ID18656425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180331801..180758425hg38UCSC Ensembl
Innerchr1:180300936..180727561hg19UCSC Ensembl
Innerchr1:178567559..178994184hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38426625
hg19426626
hg18426626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003359
Supporting Variants
Samples
Known GenesACBD6, MIR3121, XPR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3704830
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer