A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003105



Internal ID19092322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210543944..210565686hg38UCSC Ensembl
Innerchr1:210717288..210739030hg19UCSC Ensembl
Innerchr1:208783911..208805653hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3821743
hg1921743
hg1821743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv570n100
Supporting Variantsnssv3488086
Samples
Known GenesHHAT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003105
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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