A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013819



Internal ID18756351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16787920hg38UCSC Ensembl
Innerchr1:16871266..17114415hg19UCSC Ensembl
Innerchr1:16743853..16987002hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38243150
hg19243150
hg18243150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv51n100
Supporting Variantsnssv3477029
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)nsv1013819
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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