A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000042



Internal ID18742573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16690571..16935740hg38UCSC Ensembl
Innerchr1:17017066..17262235hg19UCSC Ensembl
Innerchr1:16889653..17134822hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38245170
hg19245170
hg18245170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86n100
Supporting Variantsnssv3474338, nssv3473282, nssv3699975, nssv3468863, nssv3469898, nssv3481029
Samples
Known GenesCROCC, ESPNP, 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)nsv1000042
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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