A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010534



Internal ID19099751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119572662..119597388hg38UCSC Ensembl
Innerchr1:120115285..120140011hg19UCSC Ensembl
Innerchr1:119916808..119941534hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3824727
hg1924727
hg1824727
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv303n100
Supporting Variantsnssv3482885, nssv3502426, nssv3499616
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)nsv1010534
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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