A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578200



Internal ID16018923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1049519..1049936hg38UCSC Ensembl
Innerchr19:1049518..1049935hg19UCSC Ensembl
Innerchr19:1000518..1000935hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38418
hg19418
hg18418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6183n54
Supporting Variantsnssv891395, nssv891386, nssv891381, nssv891387, nssv891391, nssv891384, nssv891392, nssv891401, nssv891393, nssv891402, nssv891385, nssv891397, nssv891394, nssv891383, nssv891380, nssv891399, nssv891379, nssv891389, nssv891390, nssv891398, nssv891378, nssv891388, nssv891396, nssv891382, nssv891400
Samples
Known GenesABCA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578200
Frequency
Sample Size17421
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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