A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009029



Internal ID18751560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143811505hg38UCSC Ensembl
Innerchr1:148953984..149306056hg19UCSC Ensembl
Innerchr1:147220608..147572680hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38272887
hg19352073
hg18352073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv360n100
Supporting Variantsnssv3502742, nssv3494507, nssv3498280, nssv3493789
Samples
Known GenesLOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009029
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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