A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv667416



Internal ID15057382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:32874437..32898494hg38UCSC Ensembl
Innerchr1:33340038..33364095hg19UCSC Ensembl
Innerchr1:33112625..33136682hg18UCSC Ensembl
Innerchr1:33009131..33033188hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg3824058
hg1924058
hg1824058
hg1724058
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516302
Supporting Variants
Samples
Known GenesHPCA, TMEM54
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv667416
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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