A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002529



Internal ID19091746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143541845..143868975hg38UCSC Ensembl
Innerchr1:149036512..149363526hg19UCSC Ensembl
Innerchr1:147303136..147630150hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38327131
hg19327015
hg18327015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv379n100
Supporting Variantsnssv3703999, nssv3499355, nssv3494448, nssv3500399, nssv3491769, nssv3498890, nssv3488077, nssv3703998
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)nsv1002529
Frequency
Sample Size11257
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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