A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001216



Internal ID19090433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190579399..191101493hg38UCSC Ensembl
Innerchr1:190548529..191070623hg19UCSC Ensembl
Innerchr1:188815152..189337246hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38522095
hg19522095
hg18522095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3484411
Samples
Known GenesLOC440704
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001216
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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