A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv723084



Internal ID15670354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147214658..147524222hg38UCSC Ensembl
Innerchr1:146686228..146996047hg19UCSC Ensembl
Innerchr1:145152852..145462671hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38309565
hg19309820
hg18309820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547676
Supporting Variants
Samples
Known GenesCHD1L, FMO5, LINC00624
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv723084
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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