A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006624



Internal ID18749155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16690571..16912960hg38UCSC Ensembl
Innerchr1:17017066..17239455hg19UCSC Ensembl
Innerchr1:16889653..17112042hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38222390
hg19222390
hg18222390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78n100
Supporting Variantsnssv3469309
Samples
Known GenesESPNP, LOC729574, MIR3675, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006624
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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