A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008201



Internal ID18750732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16596505..16888315hg38UCSC Ensembl
Innerchr1:16923000..17214810hg19UCSC Ensembl
Innerchr1:16795587..17087397hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38291811
hg19291811
hg18291811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv54n100
Supporting Variantsnssv3698888
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008201
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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