A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549115



Internal ID16336524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210549210..210551435hg38UCSC Ensembl
Innerchr1:210722554..210724779hg19UCSC Ensembl
Innerchr1:208789177..208791402hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382226
hg192226
hg182226
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv800n54
Supporting Variantsnssv736793, nssv736794, nssv736787, nssv736801, nssv736797, nssv736808, nssv736798, nssv736792, nssv736809, nssv736803, nssv736804, nssv736800, nssv736805, nssv736788, nssv736796, nssv736791, nssv736795, nssv736807, nssv736806, nssv736810, nssv736802, nssv736790, nssv736789, nssv736799
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549115
Frequency
Sample Size17421
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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