A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011597



Internal ID19100814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143545399..143893007hg38UCSC Ensembl
Innerchr1:149040066..149387581hg19UCSC Ensembl
Innerchr1:147306690..147654205hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38347609
hg19347516
hg18347516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv379n100
Supporting Variantsnssv3704088
Samples
Known GenesFCGR1C, LOC101929780, 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)nsv1011597
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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