A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003230



Internal ID19092448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229880038..230031823hg38UCSC Ensembl
Innerchr1:230015785..230167570hg19UCSC Ensembl
Innerchr1:228082408..228234193hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38151786
hg19151786
hg18151786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3488211
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003230
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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