A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003628



Internal ID19092846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143568154..143866714hg38UCSC Ensembl
Innerchr1:149062815..149361265hg19UCSC Ensembl
Innerchr1:147329439..147627889hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38298561
hg19298451
hg18298451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv379n100
Supporting Variantsnssv3486424
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)nsv1003628
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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