A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008008



Internal ID18750539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232384474..232409435hg38UCSC Ensembl
Innerchr2:233249184..233274145hg19UCSC Ensembl
Innerchr2:232957428..232982389hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3824962
hg1924962
hg1824962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4186n100
Supporting Variantsnssv3729376
Samples
Known GenesALPPL2, ECEL1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008008
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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